ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.808del (p.Leu270fs)

dbSNP: rs1555575489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599569 SCV000710576 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing The c.808delC variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.808delC variant causes a frameshift starting with codon Leucine 270, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Leu270CysfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.808delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.808delC as a pathogenic variant.

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