ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)

dbSNP: rs1555187869
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Total submissions: 2
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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 RCV000659803 SCV000781658 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV003588662 SCV004295033 pathogenic Kabuki syndrome 2023-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4270*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 23320472). ClinVar contains an entry for this variant (Variation ID: 547485). For these reasons, this variant has been classified as Pathogenic.

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