ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)

dbSNP: rs397515441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513634 SCV003440803 pathogenic Charcot-Marie-Tooth disease type 4A 2022-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GDAP1 function (PMID: 21753178, 32183277). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 50557). This missense change has been observed in individuals with autosomal dominant Charcot-Marie-Tooth disease (PMID: 21753178, 28244113). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 156 of the GDAP1 protein (p.Ala156Gly).
OMIM RCV000043548 SCV000071289 pathogenic Charcot-Marie-Tooth disease axonal type 2K 2011-08-09 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000043548 SCV004174644 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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