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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245802 SCV001419113 uncertain significance not provided 2022-08-22 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). 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. 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 2022-11-01 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; This variant is associated with the following publications: (PMID: Horjus2022[preprint])
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

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