ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15200del (p.Ile5067fs) (rs1295968274)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672982 SCV000798144 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-02-27 criteria provided, single submitter clinical testing
GeneDx RCV001008157 SCV001167918 pathogenic not provided 2019-05-14 criteria provided, single submitter clinical testing The c.15200delT variant has been reported previously in association with hearing loss (Yan et al., 016). The deletion causes a frameshift starting with codon Isoleucine 5067, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Ile5067ThrfsX23. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Blueprint Genetics RCV001075271 SCV001240886 likely pathogenic Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001008157 SCV001403775 pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile5067Thrfs*23) 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 an individual affected with non-syndromic deafness (PMID: 27344577). ClinVar contains an entry for this variant (Variation ID: 556916). 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.

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