ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.2822A>G (p.Asp941Gly)

gnomAD frequency: 0.00001  dbSNP: rs372777445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074102 SCV001239671 uncertain significance Retinal dystrophy 2019-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093407 SCV005782245 uncertain significance not provided 2024-06-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 941 of the SNRNP200 protein (p.Asp941Gly). This variant is present in population databases (rs372777445, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SNRNP200-related conditions. ClinVar contains an entry for this variant (Variation ID: 866252). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SNRNP200 protein function with a negative predictive value of 80%. 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.

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