ClinVar Miner

Submissions for variant NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter)

dbSNP: rs1419917079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000761391 SCV000891253 uncertain significance not provided 2018-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000761391 SCV002233668 pathogenic not provided 2021-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 623266). This premature translational stop signal has been observed in individual(s) with KDM6B-related neurodevelopmental disorder (PMID: 31124279). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg149*) in the KDM6B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KDM6B are known to be pathogenic (PMID: 31124279).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV003150342 SCV002570421 likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 2022-09-09 no assertion criteria provided research

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