ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

dbSNP: rs111033379
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041669 SCV000065365 likely pathogenic Rare genetic deafness 2008-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000670189 SCV000795018 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802347 SCV000942173 pathogenic not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3484*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs111033379, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18273898, 23737954, 25558175, 29142287). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 48348). For these reasons, this variant has been classified as Pathogenic.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001353056 SCV001548180 pathogenic Usher syndrome type 2A 2021-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000802347 SCV001793585 pathogenic not provided 2020-12-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33576794, 31589614, 28559085, 23737954, 25558175, 25525159, 18273898)
Genome-Nilou Lab RCV003450731 SCV004182559 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001353056 SCV004182560 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450731 SCV004208169 pathogenic Retinitis pigmentosa 39 2024-02-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814973 SCV005071079 pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing

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