ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.841G>A (p.Val281Met)

gnomAD frequency: 0.00001  dbSNP: rs866936431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519885 SCV000619179 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing The V281M variant in the SNRNP200 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V281M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V281M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V281M as a variant of uncertain significance.
Blueprint Genetics RCV001074428 SCV001240012 uncertain significance Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000519885 SCV001555976 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing

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