ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15199del (p.Ile5067fs)

dbSNP: rs2102630527
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384300 SCV001583752 pathogenic not provided 2021-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant has been observed in individual(s) with clinical features of Usher syndrome (PMID: 30073356). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile5067Serfs*23) in the USH2A gene. It is expected to result in an absent or disrupted protein product.
Natera, Inc. RCV001831387 SCV002088197 pathogenic Usher syndrome type 2A 2020-07-14 no assertion criteria provided clinical testing

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