ClinVar Miner

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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