ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)

dbSNP: rs933842186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986791 SCV001135921 likely pathogenic Retinitis pigmentosa 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858653 SCV002216451 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 469 of the SNRNP200 protein (p.Lys469Glu). This variant is not present in population databases (gnomAD no frequency). 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: 801733). 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.

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