ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys)

dbSNP: rs556400279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075309 SCV001240927 likely pathogenic Retinal dystrophy 2017-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091897 SCV001248168 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091897 SCV002243407 pathogenic not provided 2021-07-17 criteria provided, single submitter clinical testing 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"). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 866921). This variant has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 21618346, 33576794; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 689 of the SNRNP200 protein (p.Tyr689Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001091897 SCV004026492 likely pathogenic not provided 2022-05-24 criteria provided, single submitter clinical testing PS4, PP3, PM2_SUP, PP1

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