ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.848A>G (p.Tyr283Cys) (rs886041921)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000405084 SCV000330725 pathogenic not provided 2016-09-02 criteria provided, single submitter clinical testing The Y283C variant in the SMCHD1 gene has been reported previously in one individual with facioscapulohumeral muscular dystrophy who was also noted to have D4Z4 hypomethylation (Hamanaka et al., 2016). This variant was not observed in approximately 5800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y283C 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. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Y283C as a pathogenic variant.

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