ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)

dbSNP: rs267607239
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000007974 SCV000781698 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265824 SCV001443996 pathogenic Inborn genetic diseases 2019-04-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003147277 SCV002016388 pathogenic not provided 2020-10-12 criteria provided, single submitter clinical testing
Invitae RCV003588558 SCV004295025 pathogenic Kabuki syndrome 2023-03-08 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: 7538). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 20711175, 32170002). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg5454*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750).
OMIM RCV000007974 SCV000028179 pathogenic Kabuki syndrome 1 2010-09-01 no assertion criteria provided literature only
Autoinflammatory diseases unit, CHU de Montpellier RCV000007974 SCV001438204 pathogenic Kabuki syndrome 1 2015-08-04 no assertion criteria provided clinical testing

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