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

dbSNP: rs397518021

Total submissions: 9

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	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.
Labcorp Genetics (formerly Invitae), Labcorp	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
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	RCV004794353	SCV005415480	pathogenic	Retinal dystrophy	2024-05-27	criteria provided, single submitter	research