ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)

dbSNP: rs187897763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334768 SCV001527714 uncertain significance Retinitis pigmentosa 39 2018-04-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546698 SCV003445607 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 416 of the USH2A protein (p.Ala416Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs187897763, ExAC 0.02%). This variant has not been reported in the literature in individuals affected 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: "Tolerated"; 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.
Genome-Nilou Lab RCV001334768 SCV004182894 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449956 SCV004182895 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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