ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) (rs111033280)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041918 SCV000065614 pathogenic Usher syndrome 2019-02-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Counsyl RCV000675158 SCV000800775 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV001060026 SCV001224686 pathogenic not provided 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 268 of the USH2A protein (p.Gly268Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs111033280, ExAC 0.006%). This variant has been observed to segregate with Usher syndrome in families and in unrelated in individuals affected with this condition (PMID: 29490346, 29625443, 25356976). ClinVar contains an entry for this variant (Variation ID: 48592). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074162 SCV001239732 pathogenic Retinal dystrophy 2019-02-05 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003288 SCV001161371 pathogenic Usher syndrome type 2 2019-06-23 no assertion criteria provided research

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