ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)

gnomAD frequency: 0.00001  dbSNP: rs776395355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844787 SCV002104152 uncertain significance not specified 2022-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545254 SCV003475166 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 3219 of the USH2A protein (p.Thr3219Ala). This variant is present in population databases (rs776395355, gnomAD 0.01%). 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: 1343770). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003451974 SCV004182671 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451973 SCV004182672 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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