ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)

gnomAD frequency: 0.00002  dbSNP: rs372950392
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342332 SCV001536258 uncertain significance not provided 2022-07-17 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 2395 of the USH2A protein (p.Leu2395Phe). This variant is present in population databases (rs372950392, gnomAD 0.004%). 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: 1038947). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001342332 SCV001771017 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV002476581 SCV002781978 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001825879 SCV004181549 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449964 SCV004183290 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825879 SCV002090862 uncertain significance Usher syndrome type 2A 2020-03-04 no assertion criteria provided clinical testing

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