ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)

dbSNP: rs755440519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760811 SCV000890706 pathogenic not provided 2024-02-15 criteria provided, single submitter clinical testing Reported in a patient with Kabuki syndrome (PMID: 36891680); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36891680)
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001779074 SCV002016262 pathogenic Neurodevelopmental disorder 2021-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003642916 SCV004381907 pathogenic Kabuki syndrome 2 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg658*) in the KDM6A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KDM6A are known to be pathogenic (PMID: 23076834, 23913813). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KDM6A-related conditions. ClinVar contains an entry for this variant (Variation ID: 620434). For these reasons, this variant has been classified as Pathogenic.

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