ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile)

dbSNP: rs1416382590
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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 RCV001220377 SCV001392363 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 3738 of the USH2A protein (p.Asn3738Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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. RCV001833915 SCV002088337 uncertain significance Usher syndrome type 2A 2021-06-21 no assertion criteria provided clinical testing

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