ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) (rs749228276)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593818 SCV000704988 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000593818 SCV001206278 pathogenic not provided 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 3294 of the USH2A protein (p.Cys3294Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant is present in population databases (rs749228276, ExAC 0.003%). This variant has been observed in combination with another USH2A variant in individuals affected with retinitis pigmentosa and to segregate with disease in families (PMID: 24043777, 28130426, 28041643). ClinVar contains an entry for this variant (Variation ID: 438036). 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 C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075611 SCV001241238 pathogenic Retinal dystrophy 2019-01-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504661 SCV000598846 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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