ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) (rs1064793289)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486038 SCV000565652 pathogenic not provided 2016-01-22 criteria provided, single submitter clinical testing The variant has been reported previously in association with an USH2A-related disorder (Lee et al., 2015). The insertion causes a frameshift starting with codon Glutamic acid 4051, changes this amino acid to an Aspartic Acid residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu4051AspfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant as pathogenic.
Blueprint Genetics RCV001074094 SCV001239663 pathogenic Retinal dystrophy 2018-12-28 criteria provided, single submitter clinical testing
Invitae RCV000486038 SCV001375700 pathogenic not provided 2019-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu4051Aspfs*2) 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 individuals affected with retinitis pigmentosa or Usher syndrome (PMID: 26806561, 25910913). ClinVar contains an entry for this variant (Variation ID: 418537). 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.

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