ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.1030C>T (p.Arg344Ter) (rs886041918)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000392001 SCV000330719 pathogenic not provided 2016-08-12 criteria provided, single submitter clinical testing The R344X variant in the SMCHD1 gene has been reported previously as a de novo pathogenic variant in an individual with FSHD2 (Lemmers et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R344X variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R344X as a pathogenic variant
Invitae RCV000791844 SCV000931109 pathogenic Facioscapulohumeral muscular dystrophy 2 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg344*) in the SMCHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMCHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 280772). Loss-of-function variants in SMCHD1 are known to be pathogenic (PMID: 23143600). For these reasons, this variant has been classified as Pathogenic.

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