ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1783A>G (p.Ile595Val)

gnomAD frequency: 0.00001  dbSNP: rs761336347
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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 RCV001075089 SCV001240700 uncertain significance Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001209265 SCV001380691 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 866785). This variant has not been reported in the literature in individuals affected with SNRNP200-related conditions. This variant is present in population databases (rs761336347, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 595 of the SNRNP200 protein (p.Ile595Val).

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