ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.779del (p.Gly260fs) (rs748018297)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657517 SCV000779253 pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing The c.779delG pathogenic variant in the KANSL1 gene has not been published as a pathogneic variant nor has it been reported as a benign variant to our knowledge. The c.779delG variant causes a frameshift starting with codon Glycine 260, changes this amino acid to a Valine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Gly260ValfsX19. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.779delG variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of a KANSL1-related disorder in this individual.

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