ClinVar Genomic variation as it relates to human health
NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PCDHA1 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 1019 | |
PCDHA10 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 413 | |
PCDHA11 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 334 | |
PCDHA12 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 272 | |
PCDHA13 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 184 | |
PCDHA2 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 958 | |
PCDHA3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 895 | |
PCDHA4 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 824 | |
PCDHA5 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 780 | |
PCDHA6 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 719 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 31, 2022 | RCV004124384.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024