ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.4135_4136del (p.Met1379fs) (rs398123744)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146210 SCV000193446 pathogenic Kabuki syndrome 1 2013-08-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790669 SCV000226100 pathogenic not provided 2015-03-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000146210 SCV000781562 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000799267 SCV000938921 pathogenic Kabuki syndrome 2019-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1379Valfs*52) 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 reported in the literature in individuals affected with Kabuki syndrome (PMID: 24633898, 26512256, 27302555), and in at least one individual this variant was reported to be de novo (PMID: 27302555). ClinVar contains an entry for this variant (Variation ID: 94216). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic.

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