ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270858 SCV001451630 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-08-22 criteria provided, single submitter clinical testing The SMC1A c.3362G>A (p.Arg1121His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Missense variants in this gene are a common mechanism of disease and this variant is found in the C-terminal P-loop NTPAse domain, which is known to bind to DNA (Mannini et al. 2010; Huisman et al. 2017). Several clinically significant missense variants have been reported in this domain, including at residues 1122 and 1123 (Mannini et al. 2010; Huisman et al. 2017). Based on the collective evidence and the application of the ACMG criteria, the p.Arg1121His variant is classified as pathogenic for Cornelia de Lange syndrome.
GeneDx RCV001565382 SCV001788721 pathogenic not provided 2020-04-30 no assertion criteria provided clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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