ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter)

gnomAD frequency: 0.00001  dbSNP: rs760302201
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673985 SCV000799251 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861829 SCV002178166 pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2945*) 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 (rs760302201, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 20507924, 31266775, 33576794). ClinVar contains an entry for this variant (Variation ID: 557801). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001861829 SCV002559647 pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing Observed multiple times with a pathogenic variant in unrelated patients with retinitis pigmentosa or Usher syndrome in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in some cases (PMID: 37217489, 18641288, 28944237, 34781295); 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31266775, 28944237, 20507924, 33576794, 27460420, 31964843, 32531858, 35457016, 32037395, 37217489, 18641288, 34781295)
Genome-Nilou Lab RCV003453373 SCV004182765 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453372 SCV004182766 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453373 SCV005055681 pathogenic Retinitis pigmentosa 39 2024-03-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817908 SCV005069628 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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