ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) (rs751297226)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643971 SCV000765658 uncertain significance Charcot-Marie-Tooth disease, type 4A 2019-06-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 87 of the GDAP1 protein (p.Ile87Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs751297226, ExAC 0.001%). This variant has not been reported in the literature in individuals with GDAP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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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