ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg)

dbSNP: rs2143618974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001914450 SCV002190020 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SMCHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 1420684). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1367 of the SMCHD1 protein (p.Lys1367Arg).
GeneDx RCV003227047 SCV003923678 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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