ClinVar Miner

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

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Total submissions: 1
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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.

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