Submissions for variant NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) (rs397515432)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001055971	SCV001220386	uncertain significance	Charcot-Marie-Tooth disease, type 4A	2019-12-30	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with aspartic acid at codon 327 of the GDAP1 protein (p.Gly327Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive Charcot-Marie-Tooth disease (PMID: 21365284). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 40049). This variant has been reported to affect GDAP1 protein function (PMID: 21365284). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM	RCV000033148	SCV000056930	pathogenic	Charcot-Marie-Tooth disease, recessive intermediate A	2011-05-01	no assertion criteria provided	literature only

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