ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)

dbSNP: rs397518036
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Total submissions: 9
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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 RCV000041921 SCV000065617 pathogenic Rare genetic deafness 2012-07-26 criteria provided, single submitter clinical testing The Arg274X variant in USH2A has been reported in 2 individuals with Usher syndr ome type II who were compound heterozygous with a second pathogenic USH2A varian t (Garcia-Garcia 2011). This nonsense variant leads to a premature termination c odon at position 274, which is predicted to lead to a truncated or absent protei n. In summary, this variant meets our criteria to be classified as pathogenic (h ttp://pcpgm.partners.org/LMM).
Counsyl RCV000669898 SCV000794697 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852861 SCV002245656 pathogenic not provided 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg274*) 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 (rs397518036, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 22004887). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 48595). For these reasons, this variant has been classified as Pathogenic.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389452 SCV003927130 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Genome-Nilou Lab RCV003450899 SCV004182947 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831706 SCV004182948 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450899 SCV004208164 pathogenic Retinitis pigmentosa 39 2023-11-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888408 SCV004708076 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001831706 SCV002094013 pathogenic Usher syndrome type 2A 2021-05-17 no assertion criteria provided clinical testing

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