ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) (rs752377040)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667292 SCV000791722 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004140 SCV001162873 pathogenic Usher syndrome, type 2A criteria provided, single submitter clinical testing
Invitae RCV001059699 SCV001224336 uncertain significance not provided 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 5060 of the USH2A protein (p.Ser5060Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs752377040, ExAC 0.05%). This variant has been observed in several individuals affected with retinitis pigmentosa and/or Usher syndrome (PMID: 29899460, 29625443, 25649381). ClinVar contains an entry for this variant (Variation ID: 552090). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV001075374 SCV001240995 uncertain significance Retinal dystrophy 2018-06-12 criteria provided, single submitter clinical testing

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