ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs)

dbSNP: rs587783703
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146185 SCV000193417 pathogenic Kabuki syndrome 1 2013-12-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724586 SCV000231319 pathogenic not provided 2015-02-05 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000146185 SCV000781700 pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000818696 SCV000959322 pathogenic Kabuki syndrome 2019-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn5480Valfs*6) 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 an individual affected with Kabuki syndrome (PMID: 21671394). ClinVar contains an entry for this variant (Variation ID: 158744). Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic.
Autoinflammatory diseases unit, CHU de Montpellier RCV000146185 SCV001438205 pathogenic Kabuki syndrome 1 2018-06-22 no assertion criteria provided clinical testing

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