ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.737del (p.Leu246fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Etlik City Hospital RCV004698458 SCV005199913 pathogenic Kabuki syndrome 2 2024-08-23 criteria provided, single submitter clinical testing This deletion in KDM6A causes frame shift in reading frame which creates premature stop codon at amino acid position 249. The variant has not been previously reported in the literature (PubMed, LitVar2), or in the population data (GnomAD). Truncated transcript predicted to go nonsense mediated mRNA decay. Subsequent Sanger sequencing confirmed variant's de novo inheritance. The proband showed complete compatibility with the related condition. The variant evaluated as pathogenic according to ACMG criteria(PVS1, PM2, PP4).

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