ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) (rs527236122)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490337 SCV000267553 uncertain significance Usher syndrome, type 2A 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000675139 SCV000800727 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-11 criteria provided, single submitter clinical testing
Invitae RCV001221094 SCV001393118 uncertain significance not provided 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 5078 of the USH2A protein (p.Pro5078Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs527236122, ExAC 0.1%). This variant has been observed in an individual with retinitis pigmentosa and several individuals with non-syndromic hearing loss (PMID: 25324289, 23967202, 26346818). ClinVar contains an entry for this variant (Variation ID: 143177). 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"). 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.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132708 SCV000172661 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.

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