ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) (rs886041502)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000264474 SCV000330167 pathogenic not provided 2017-12-05 criteria provided, single submitter clinical testing This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this variant has not been previously reported to our knowledge, we consider it to the pathogenic.
Blueprint Genetics RCV001073771 SCV001239331 likely pathogenic Retinal dystrophy 2017-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000264474 SCV001246997 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000264474 SCV001586718 pathogenic not provided 2020-03-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2651Glnfs*10) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome or retinitis pigmentosa (PMID: 26927203). ClinVar contains an entry for this variant (Variation ID: 280266). 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.
Human Genetics - Radboudumc,Radboudumc RCV000678656 SCV000804747 pathogenic Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing
Counsyl RCV000984233 SCV001132310 pathogenic Usher syndrome, type 2A 2017-03-09 no assertion criteria provided clinical testing
Counsyl RCV000678656 SCV001132311 pathogenic Retinitis pigmentosa 39 2017-03-09 no assertion criteria provided clinical testing
Natera, Inc. RCV000984233 SCV001458117 pathogenic Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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