ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) (rs779223727)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000206149 SCV000454537 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406192 SCV000454538 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206149 SCV000259732 uncertain significance Charcot-Marie-Tooth disease type 4 2015-08-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 891 of the SH3TC2 protein (p.Ala891Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (no rsID, <0.01%) but has not been published in the literature. The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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.

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