ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2902dup (p.Gln968fs)

dbSNP: rs1374665357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008388 SCV001168157 pathogenic not provided 2018-09-26 criteria provided, single submitter clinical testing The c.2902dupC pathogenic variant in the KANSL1 gene causes a frameshift starting with codon Glutamine 968, changes this amino acid to a Proline residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Gln968ProfsX6. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2902dupC 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 Koolen-de Vries syndrome in this individual.

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