Table 7.

Notable PNPLA6 Pathogenic Variants

Reference
Sequences		DNA Nucleotide ChangePredicted
Protein Change		Comment [Reference]
NM_006702​.5
NP_006693​.3 		c.2944_2947dupAGCCp.Arg983GlnfsTer38Reported across the PNPLA6 disorders phenotypic spectrum [Rainier et al 2008, Synofzik et al 2014a, Hufnagel et al 2015, Kmoch et al 2015]
c.2990C>Tp.Ser997LeuTo date reported only in compound heterozygotes w/Boucher-Neuhauser syndrome [Deik et al 2014, Synofzik et al 2014a]
c.3034A>Gp.Met1012ValTo date reported only in homozygotes or compound heterozygotes w/SPG39 [Rainier et al 2008]
c.3152G>Ap.Arg1051GlnTo date reported only in compound heterozygotes w/Oliver-McFarlane syndrome [Hufnagel et al 2015]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: PNPLA6 Disorders

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