ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)

dbSNP: rs1555195118
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Total submissions: 4
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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 RCV000659718 SCV000781566 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001233752 SCV001406361 pathogenic Kabuki syndrome 2019-07-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has been observed in an individual with clinical features of Kabuki syndrome (PMID: 25896430). ClinVar contains an entry for this variant (Variation ID: 547421). This sequence change creates a premature translational stop signal (p.Lys1466Glnfs*25) in the KMT2D gene. It is expected to result in an absent or disrupted protein product.
Laboratory of Medical Genetics, University of Torino RCV000659718 SCV004171085 pathogenic Kabuki syndrome 1 criteria provided, single submitter clinical testing
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV000659718 SCV004847178 pathogenic Kabuki syndrome 1 2023-02-01 criteria provided, single submitter clinical testing

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