ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1891G>C (p.Asp631His)

dbSNP: rs552400144
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212527 SCV001384113 uncertain significance not provided 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 631 of the USH2A protein (p.Asp631His). This variant is present in population databases (rs552400144, gnomAD 0.003%). This missense change has been observed in individuals with USH2A-related conditions (PMID: 33576794; Invitae). ClinVar contains an entry for this variant (Variation ID: 942523). 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 disruptive. 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 RCV002484158 SCV002775760 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449669 SCV004182488 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001828693 SCV004182489 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828693 SCV002093971 uncertain significance Usher syndrome type 2A 2020-08-25 no assertion criteria provided clinical testing

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