ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)

gnomAD frequency: 0.00001  dbSNP: rs542341955
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761488 SCV002000945 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33111992, 32675063)
Labcorp Genetics (formerly Invitae), Labcorp RCV001761488 SCV003453754 uncertain significance not provided 2021-12-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 5057 of the USH2A protein (p.Ile5057Phe). This variant is present in population databases (rs542341955, gnomAD 0.05%). 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: 1312600). 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.
Genome-Nilou Lab RCV003451903 SCV004181681 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451902 SCV004181692 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888319 SCV004707188 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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