ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13375_13397del (p.Gly4459fs)

dbSNP: rs2120418614
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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 RCV002838465 SCV003218800 pathogenic Kabuki syndrome 2022-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly4459Thrfs*20) 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 variant has not been reported in the literature in individuals affected with KMT2D-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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