ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12868C>T (p.Gln4290Ter) (rs397517983)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670430 SCV000795281 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV000819445 SCV000960105 pathogenic not provided 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4290*) 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 several individuals affected with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 48408). 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041731 SCV000065427 pathogenic Rare genetic deafness 2011-12-23 criteria provided, single submitter clinical testing The Gln4290X variant in USH2A has not been reported in the literature nor previo usly identified by our laboratory. However, the Gln4290X variant leads to a prem ature stop codon at position 4290, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic.

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