ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) (rs754768875)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578898 SCV000680588 pathogenic not provided 2018-08-29 criteria provided, single submitter clinical testing The R1653X nonsense variant has been reported previously in association with USH2A-related disorders (Neveling et al., 2012; Baux et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 2/10128 (0.0197%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Invitae RCV000578898 SCV000937987 pathogenic not provided 2019-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1653*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754768875, ExAC 0.01%). This variant has been observed in several individuals affected with Usher syndrome and retinitis pigmentosa (PMID: 27957503, 18273898, 22334370, 28512305). ClinVar contains an entry for this variant (Variation ID: 488733). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10909849, 24944099, 25649381, 20507924). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000670513 SCV001135553 pathogenic Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Counsyl RCV000670513 SCV000795372 pathogenic Usher syndrome, type 2A 2017-11-07 no assertion criteria provided clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787731 SCV000926734 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787898 SCV000926916 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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