ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)

dbSNP: rs775560370
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319294 SCV001510034 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 4542 of the USH2A protein (p.Ala4542Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). 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: "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.
Fulgent Genetics, Fulgent Genetics RCV002493671 SCV002791446 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449911 SCV004183147 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001830326 SCV004183148 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830326 SCV002088249 uncertain significance Usher syndrome type 2A 2020-06-21 no assertion criteria provided clinical testing

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