ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3437A>G (p.Lys1146Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208394 SCV005849425 uncertain significance Kabuki syndrome 2 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.3437A>G(p.Lys1146Arg) variant in KDM6A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Lys at position 1146 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Lys1146Arg in KDM6A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Computational evidence (Polyphen - Benign, SIFT - Tolerated, and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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