ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)

gnomAD frequency: 0.00001  dbSNP: rs750512832
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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 RCV001221400 SCV001393443 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 4323 of the USH2A protein (p.Leu4323Phe). This variant is present in population databases (rs750512832, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 949836). 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 C15"). 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 RCV002504277 SCV002816588 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449697 SCV004181922 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001828765 SCV004181923 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828765 SCV002088284 uncertain significance Usher syndrome type 2A 2020-04-20 no assertion criteria provided clinical testing

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