ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1666T>C (p.Tyr556His)

gnomAD frequency: 0.00001  dbSNP: rs1222582781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215201 SCV001386931 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 556 of the USH2A protein (p.Tyr556His). This variant is not present in population databases (gnomAD no frequency). 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: 944734). 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.
Breakthrough Genomics, Breakthrough Genomics RCV001215201 SCV005186262 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001828713 SCV002093976 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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