ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe)

dbSNP: rs2104352435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002016907 SCV002305028 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1511786). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SNRNP200-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 651 of the SNRNP200 protein (p.Leu651Phe).
Fulgent Genetics, Fulgent Genetics RCV002492365 SCV002779681 uncertain significance Retinitis pigmentosa 33 2021-10-24 criteria provided, single submitter clinical testing

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