ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12232_12233GA[1] (p.Asn4079fs) (rs398124618)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671759 SCV000796778 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082828 SCV000331482 pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000082828 SCV000490874 pathogenic not provided 2017-04-04 criteria provided, single submitter clinical testing The c.12234_12235delGA frameshift variant in the USH2A gene has been reported previously in association with Usher syndrome type IIA (Baux et al., 2007; Glöckle et al., 2014). The c.12234_12235delGA variant in the USH2A gene causes a frameshift starting with codon Asparagine 4079, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Asn4079TrpfsX19. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant to be pathogenic.

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