ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4454del (p.Pro1485fs)

dbSNP: rs2498428284
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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 RCV003062513 SCV003441258 pathogenic Kabuki syndrome 2022-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1485Leufs*21) 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: 24633898). For these reasons, this variant has been classified as Pathogenic.

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