ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702085 SCV000830919 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 414 of the SH3TC2 protein (p.Val414Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs138303846, ExAC 0.04%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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