ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.545_546del (p.Lys182fs) (rs780779563)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672318 SCV000797415 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001008088 SCV001167833 pathogenic not provided 2018-11-02 criteria provided, single submitter clinical testing The c.545_546delAA variant in the USH2A gene has been reported previously in association with autosomal recessive Usher syndrome type II (Sayedahmadi et al., 2004; Hartel et al., 2016). In addition, the c.545_546delAA variant has been reported in an individual with retinitis pigmentosa who also had another frameshift variant in the USH2A gene (Sandberg et al., 2008). The c.545_546delAA variant causes a frameshift starting with codon Lysine 182, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Lys182ArgfsX33. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.545_546delAA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.545_546delAA as a pathogenic variant.
Blueprint Genetics RCV001073226 SCV001238762 pathogenic Retinal dystrophy 2018-08-07 criteria provided, single submitter clinical testing

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