ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) (rs397518021)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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.

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