ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)

gnomAD frequency: 0.00022  dbSNP: rs200802261
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245802 SCV001419113 uncertain significance not provided 2024-11-11 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 2870 of the USH2A protein (p.Pro2870Leu). This variant is present in population databases (rs200802261, gnomAD 0.06%). 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: 970261). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. 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 RCV001245802 SCV002601133 uncertain significance not provided 2025-03-04 criteria provided, single submitter clinical testing Reported with a second variant (phase unknown) in a patient with hearing loss in published literature (PMID: 37811145); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36232761, 37811145)
Fulgent Genetics, Fulgent Genetics RCV002504357 SCV002816157 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-01-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449776 SCV004182790 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829968 SCV004182791 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829968 SCV002090816 uncertain significance Usher syndrome type 2A 2020-03-20 no assertion criteria provided clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814006 SCV005071151 uncertain significance Retinal dystrophy 2019-01-01 no assertion criteria provided clinical testing

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