ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)

dbSNP: rs111033514
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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 RCV001975355 SCV002249173 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 2045 of the USH2A protein (p.His2045Leu). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is present in population databases (rs111033514, ExAC 0.001%). 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.
Fulgent Genetics, Fulgent Genetics RCV002507717 SCV002816015 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453893 SCV004181706 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453892 SCV004181707 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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