ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059392 SCV001224016 uncertain significance Charcot-Marie-Tooth disease, type 4A 2019-12-12 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 313 of the GDAP1 protein (p.Lys313Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.

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