ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) (rs764182950)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668871 SCV000793544 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-18 criteria provided, single submitter clinical testing
Mendelics RCV000986527 SCV001135542 pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073802 SCV001239364 likely pathogenic Retinal dystrophy 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV001209780 SCV001381230 pathogenic not provided 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 3272 of the USH2A protein (p.Pro3272Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs764182950, ExAC 0.01%). This variant has been observed in individual(s) with USH2A-related conditions (PMID: 18281613, 27157150, 26667666, 29142287, 26338283, 25575603). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 553424). 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.
Human Genetics - Radboudumc,Radboudumc RCV000678659 SCV000804751 uncertain significance Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing

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