ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs)

dbSNP: rs1057518182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412816 SCV000491623 pathogenic not provided 2016-10-20 criteria provided, single submitter clinical testing The c.1579_1582delATTG pathogenic variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1579_1582delATTG variant causes a frameshift starting with codon Isoleucine 527, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 50 of the new reading frame, denoted p.Ile527ValfsX50. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1579_1582delATTG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1579_1582delATTG as a pathogenic variant.

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