ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr)

gnomAD frequency: 0.00006  dbSNP: rs145719886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910016 SCV002183958 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 4497 of the USH2A protein (p.Phe4497Tyr). This variant is present in population databases (rs145719886, gnomAD 0.02%). 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: 1408537). 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 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.
GeneDx RCV001910016 SCV003805483 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003452138 SCV004183159 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003452137 SCV004183160 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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