ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11411del (p.Pro3804fs) (rs397517973)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041696 SCV000065392 pathogenic Rare genetic deafness 2012-01-16 criteria provided, single submitter clinical testing The p.Pro3804fs variant in USH2A has been previously reported in one individual and an affected family member with hearing loss by our laboratory, and was abse nt from large population studies. This variant is predicted to cause a frameshif t, which alters the protein's amino acid sequence beginning at codon 3804 and le ads to a premature stop 13 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the USH2A gene is an established disease mechanism in Usher syndrome. In summary, this variant m eets our criteria to be classified as pathogenic for autosomal recessive Usher s yndrome based on the predicted impact of the variant on the protein.
Invitae RCV001051639 SCV001215805 pathogenic not provided 2020-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro3804Leufs*13) 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 USH2A-related conditions (PMID: 24944099, 28838317). ClinVar contains an entry for this variant (Variation ID: 48375). 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.
Blueprint Genetics RCV001074997 SCV001240607 pathogenic Retinal dystrophy 2017-12-21 criteria provided, single submitter clinical testing
Counsyl RCV000670912 SCV000795827 pathogenic Retinitis pigmentosa 39 2017-11-19 no assertion criteria provided clinical testing

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