ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)

gnomAD frequency: 0.00039  dbSNP: rs112273610
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037714 SCV001201142 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 2532 of the USH2A protein (p.Lys2532Thr). This variant is present in population databases (rs112273610, gnomAD 0.1%). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 836552). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV001037714 SCV002818941 uncertain significance not provided 2023-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003455155 SCV004183229 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271978 SCV004183230 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001037714 SCV005187237 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271978 SCV001453605 uncertain significance Usher syndrome type 2A 2019-12-31 no assertion criteria provided clinical testing

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