ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)

dbSNP: rs587783685
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146159 SCV000193384 pathogenic Kabuki syndrome 1 2013-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624920 SCV000742681 pathogenic Inborn genetic diseases 2017-06-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000146159 SCV000781655 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000707588 SCV000836689 pathogenic Kabuki syndrome 2018-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4198*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Kabuki syndrome (PMID: 28295206, 26300940, 23320472, 27302555). ClinVar contains an entry for this variant (Variation ID: 158722). Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000146159 SCV000893301 pathogenic Kabuki syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001548390 SCV001768292 pathogenic not provided 2021-03-18 criteria provided, single submitter clinical testing 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24739679, 28884922, 27302555, 31935506, 23320472, 22126750, 28991257)
Autoinflammatory diseases unit, CHU de Montpellier RCV000146159 SCV001438126 pathogenic Kabuki syndrome 1 2014-06-05 no assertion criteria provided clinical testing

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