ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser)

dbSNP: rs1295558388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199784 SCV001162700 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001860550 SCV002143108 uncertain significance not provided 2022-10-16 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 813241). 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. 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. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1885 of the SNRNP200 protein (p.Asn1885Ser).

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