ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3626dup (p.Asn1210fs)

dbSNP: rs1602965271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008376 SCV001168144 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing The c.3470dupT variant in the KDM6A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3470dupT variant causes a frameshift starting with codon Asparagine 1158, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Asn1158LysfsX6. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3470dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3470dupT as a pathogenic variant.

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