ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) (rs200819602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520904 SCV000620007 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SH3TC2 gene. The A1043S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1043S variant is observed in 21/126512 (0.02%) alleles from individuals of non-Finnish European background (Lek et al., 2016). The A1043S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000536439 SCV000657922 likely benign Charcot-Marie-Tooth disease type 4 2019-12-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173166 SCV001336246 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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