ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)

dbSNP: rs144200261
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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 RCV001365214 SCV001561477 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 4398 of the USH2A protein (p.Ser4398Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. RCV001826038 SCV002088275 uncertain significance Usher syndrome type 2A 2020-11-10 no assertion criteria provided clinical testing

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