ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)

gnomAD frequency: 0.00011  dbSNP: rs141339026
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239687 SCV001412580 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1148 of the USH2A protein (p.Pro1148Leu). This variant is present in population databases (rs141339026, gnomAD 0.02%). 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: 965280). 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"). 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.
GeneDx RCV001239687 SCV001770407 uncertain significance not provided 2021-09-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003449741 SCV004182342 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834101 SCV004182343 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001239687 SCV001957505 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001239687 SCV001967905 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001834101 SCV002093932 uncertain significance Usher syndrome type 2A 2020-06-08 no assertion criteria provided clinical testing

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