ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) (rs570990910)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556624 SCV000644069 uncertain significance Charcot-Marie-Tooth disease, type 4A 2017-04-04 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 144 of the GDAP1 protein (p.Pro144Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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