ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) (rs1304078301)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008938 SCV001168745 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing The c.608_611dupGGGG variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.608_611dupGGGG variant causes a frameshift starting with codon Methionine 205, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.M205GfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.608_611dupGGGG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.608_611dupGGGG as a pathogenic variant

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