ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) (rs1553248812)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627538 SCV000748538 likely pathogenic not provided 2018-03-27 criteria provided, single submitter clinical testing The c.15267_15275delGAATGTTTAinsC variant causes a frameshift starting with codon Leucine 5089, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 86 of the new reading frame, denoted p.Leu5089PhefsX86. This variant is predicted to cause loss of normal protein function through protein truncation. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be likely pathogenic.

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