ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)

dbSNP: rs397517983
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
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 2022-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 48408). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 24944099, 29625443). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
Blueprint Genetics RCV001074436 SCV001240020 pathogenic Retinal dystrophy 2017-02-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450771 SCV004181939 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450770 SCV004181940 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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