ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14944del (p.Trp4982fs)

dbSNP: rs2499038830
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002862065 SCV003223114 pathogenic Kabuki syndrome 2022-07-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp4982Glyfs*13) 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 has not been reported in the literature in individuals affected with KMT2D-related conditions. For these reasons, this variant has been classified as Pathogenic.

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