ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)

dbSNP: rs1657955894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001303804 SCV001493062 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 4325 of the USH2A protein (p.Pro4325Ala). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1006718). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001303804 SCV002061427 uncertain significance not provided 2021-07-12 criteria provided, single submitter clinical testing PP3, PM2
Genome-Nilou Lab RCV003449863 SCV004181920 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449862 SCV004181921 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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