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 2020-12-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27344577)
Blueprint Genetics RCV001075271 SCV001240886 likely pathogenic Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001008157 SCV001403775 pathogenic not provided 2020-02-26 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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