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NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg) AND Garg-Mishra progeroid syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 13, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003403732.1

Allele description [Variation Report for NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)]

NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)

Gene:
TOMM7:translocase of outer mitochondrial membrane 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
HGVS:
  • NC_000007.14:g.22822707A>G
  • NM_019059.5:c.73T>CMANE SELECT
  • NP_061932.1:p.Trp25Arg
  • NC_000007.13:g.22862326A>G
Protein change:
W25R; TRP25ARG
Links:
OMIM: 607980.0002
Molecular consequence:
  • NM_019059.5:c.73T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Garg-Mishra progeroid syndrome (GMPGS)
Identifiers:
MONDO: MONDO:0957953; MedGen: CN375812; OMIM: 620601

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004102635OMIM
no assertion criteria provided
Pathogenic
(Nov 13, 2023) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.

Young C, Batkovskyte D, Kitamura M, Shvedova M, Mihara Y, Akiba J, Zhou W, Hammarsjö A, Nishimura G, Yatsuga S, Grigelioniene G, Kobayashi T.

HGG Adv. 2023 Jan 12;4(1):100148. doi: 10.1016/j.xhgg.2022.100148.

PubMed [citation]
PMID:
36299998
PMCID:
PMC9589026

Details of each submission

From OMIM, SCV004102635.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese boy who died at 2.5 years of age with Garg-Mishra progeroid syndrome (GMPGS; 620601), Young et al. (2023) identified homozygosity for a c.73T-C transition (c.73T-C, NM_019059.5) in the TOMM7 gene, resulting in a trp25-to-arg (W25R) substitution at a highly conserved residue within the kinked region. His unaffected parents were heterozygous for the mutation. Functional analysis in a mouse model with the W25R mutation (see ANIMAL MODEL) indicated that the variant resulted in partial loss of Tomm7 function, which appeared to impair mitochondrial bioenergetics.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024