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 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 450579). This variant has not been reported in the literature in individuals affected with SNRNP200-related conditions. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 281 of the SNRNP200 protein (p.Val281Met).

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