ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) (rs1321779316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Genomics Laboratory,Medical University of South Carolina RCV000754981 SCV000803391 uncertain significance Leber congenital amaurosis 2018-06-01 criteria provided, single submitter research
Invitae RCV001061172 SCV001225905 uncertain significance not provided 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 654 of the USH2A protein (p.Leu654Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related conditions. 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: "Benign"; 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 RCV001074999 SCV001240609 uncertain significance Retinal dystrophy 2017-12-22 criteria provided, single submitter clinical testing

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