ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12869A>T (p.Gln4290Leu)

gnomAD frequency: 0.00001  dbSNP: rs1481528981
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296778 SCV001485752 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 4290 of the USH2A protein (p.Gln4290Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1000623). This variant has not been reported in the literature in individuals affected with USH2A-related conditions.

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