ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)

dbSNP: rs137876918
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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 RCV001964180 SCV002255730 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 3271 of the USH2A protein (p.Met3271Ile). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1470450). 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 isoleucine 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.
Fulgent Genetics, Fulgent Genetics RCV002492179 SCV002801536 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-04-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453905 SCV004182656 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453904 SCV004182657 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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