ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)

dbSNP: rs397518021
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Total submissions: 8
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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 RCV000041869 SCV000065565 pathogenic Rare genetic deafness 2010-04-13 criteria provided, single submitter clinical testing The Arg1930X variant has not been reported in the literature nor previously iden tified by our laboratory. The Arg1930X variant leads to a premature stop codon a t position 1930 which is predicted to lead to a truncated or absent protein. The refore, this variant is highly likely to be pathogenic.
Counsyl RCV000668739 SCV000793389 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-08-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289411 SCV001477200 pathogenic not provided 2020-07-08 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.
Invitae RCV001289411 SCV002241853 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 48543). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is present in population databases (rs397518021, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg1930*) 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).
GeneDx RCV001289411 SCV004021475 likely pathogenic not provided 2023-01-20 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 significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003450859 SCV004181763 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450858 SCV004181764 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450859 SCV004208313 pathogenic Retinitis pigmentosa 39 2023-08-25 criteria provided, single submitter clinical testing

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