ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)

gnomAD frequency: 0.00001  dbSNP: rs751019233
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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 RCV001221588 SCV001393644 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 4696 of the USH2A protein (p.Ser4696Pro). This variant is present in population databases (rs751019233, gnomAD 0.002%). 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: 949983). 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 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. RCV001833920 SCV002088236 uncertain significance Usher syndrome type 2A 2020-01-20 no assertion criteria provided clinical testing

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