ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) (rs768161313)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674880 SCV000800288 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734827 SCV000862999 pathogenic not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV000734827 SCV001222109 pathogenic not provided 2020-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4371Argfs*19) in the USH2A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with Usher syndrome (PMID: 28894305). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558585). 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.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985058 SCV001133000 likely pathogenic Usher syndrome, type 2A 2019-09-15 no assertion criteria provided clinical testing

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