ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)

gnomAD frequency: 0.00001  dbSNP: rs55838724
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001345151 SCV001539253 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 4732 of the USH2A protein (p.Pro4732Ser). This variant is present in population databases (rs55838724, gnomAD 0.004%). 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: 1041351). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002493771 SCV002801341 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-02-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449968 SCV004183092 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001836338 SCV004183093 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836338 SCV002088235 uncertain significance Usher syndrome type 2A 2020-03-04 no assertion criteria provided clinical testing

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