ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)

gnomAD frequency: 0.00001  dbSNP: rs1427845684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334769 SCV001527716 uncertain significance Retinitis pigmentosa 39 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546699 SCV003266298 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 4562 of the USH2A protein (p.Ile4562Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV001334769 SCV004183140 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449957 SCV004183141 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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