ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)

dbSNP: rs746985615
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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 RCV001243355 SCV001416508 uncertain significance not provided 2022-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 4812 of the USH2A protein (p.Asn4812Tyr). This variant is present in population databases (rs746985615, gnomAD 0.0009%). 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: 968259). 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 C0"). 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. RCV001829022 SCV002088222 uncertain significance Usher syndrome type 2A 2021-03-11 no assertion criteria provided clinical testing

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