ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)

gnomAD frequency: 0.00001  dbSNP: rs755020832
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375380 SCV001571813 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV002550217 SCV003519210 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3353 of the USH2A protein (p.Pro3353Leu). This variant is present in population databases (rs755020832, gnomAD 0.007%). 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: 1065054). 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 RCV003450036 SCV004182606 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450035 SCV004182607 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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