ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser)

gnomAD frequency: 0.00001  dbSNP: rs756368420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000318655 SCV000335219 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000685876 SCV000813376 uncertain significance Facioscapulohumeral muscular dystrophy 2 2022-08-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 283238). 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. 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. This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. This variant is present in population databases (rs756368420, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1082 of the SMCHD1 protein (p.Asn1082Ser).

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