ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)

gnomAD frequency: 0.00004  dbSNP: rs397518044
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041943 SCV000065639 uncertain significance not specified 2010-04-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.
Counsyl RCV000667786 SCV000792290 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513608 SCV003510986 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3080 of the USH2A protein (p.Phe3080Leu). This variant is present in population databases (rs397518044, gnomAD 0.003%). 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: 48617). 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 leucine 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.
Genome-Nilou Lab RCV003450908 SCV004182726 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831708 SCV004182727 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831708 SCV002088412 uncertain significance Usher syndrome type 2A 2020-01-25 no assertion criteria provided clinical testing

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