ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)

gnomAD frequency: 0.00001  dbSNP: rs751130485
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255960 SCV000321996 pathogenic not provided 2022-01-10 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; This variant is associated with the following publications: (PMID: 25525159, 20507924, 22135276, 24944099, 30358468, 28559085, 31054281, 31736247, 31047384)
Labcorp Genetics (formerly Invitae), Labcorp RCV000255960 SCV001231048 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1946*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 265287). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 28559085). This variant is present in population databases (rs751130485, gnomAD 0.01%).
Genome-Nilou Lab RCV001276244 SCV004181757 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475859 SCV004200677 pathogenic Retinitis pigmentosa 39 2023-12-24 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888668 SCV004707981 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001276244 SCV001462251 pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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