ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038642 SCV001202121 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 965 of the SH3TC2 protein (p.Ser965Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SH3TC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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