ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val)

dbSNP: rs2063918440
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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 RCV001075483 SCV001241107 likely pathogenic Retinal dystrophy 2018-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203455 SCV001374621 likely pathogenic not provided 2022-02-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 867016). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 24319334, 32037395; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 542 of the SNRNP200 protein (p.Ala542Val).

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