ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)

dbSNP: rs756866344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302585 SCV001491799 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 2797 of the USH2A protein (p.Ser2797Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs756866344, 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 (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.
Natera, Inc. RCV001835455 SCV002090824 uncertain significance Usher syndrome type 2A 2021-01-11 no assertion criteria provided clinical testing

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