ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala)

gnomAD frequency: 0.00001  dbSNP: rs1661940699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061178 SCV001225911 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 3365 of the USH2A protein (p.Pro3365Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. 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 C25"). 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. RCV001832547 SCV002088371 uncertain significance Usher syndrome type 2A 2021-02-11 no assertion criteria provided clinical testing

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