ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5581del (p.Ala1861fs) (rs1572399804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008950 SCV001168758 pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing The c.5581delG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant causes a frameshift starting with codon Alanine 1861, changes this amino acid to a Proline residue and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Ala1861ProfsX54. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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