ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) (rs769133498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227361 SCV000290777 uncertain significance Charcot-Marie-Tooth disease type 4 2016-01-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1054 of the SH3TC2 protein (p.His1054Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs769133498, ExAC 0.01%) but has not been reported in the literature in individuals with a SH3TC2-related disease. 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. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Genesis Genome Database RCV000857142 SCV000999721 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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