ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)

gnomAD frequency: 0.00001  dbSNP: rs199851839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668551 SCV000793172 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-07-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075854 SCV001241493 likely pathogenic Retinal dystrophy 2019-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855501 SCV002304477 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 4795 of the USH2A protein (p.Leu4795Arg). This variant is present in population databases (rs199851839, gnomAD 0.002%). This missense change has been observed in individuals with autosomal recessive retinitis pigmentosa and/or Usher syndrome (PMID: 18273898, 27957503, 34203967; Invitae). ClinVar contains an entry for this variant (Variation ID: 553162). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt USH2A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001855501 SCV002499959 uncertain significance not provided 2022-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18273898, 27957503)
Baylor Genetics RCV000678645 SCV004200709 pathogenic Retinitis pigmentosa 39 2024-01-16 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678645 SCV000804735 uncertain significance Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing

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