ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs)

dbSNP: rs1064796433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483577 SCV000573151 pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing The c.2311_2323del13insATG variant in the KANSL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2311_2323del13insATG variant causes a frameshift starting with codon Leucine 771, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Leu771MetfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2311_2323del13insATG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2311_2323del13insATG as a pathogenic variant.

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