ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1634del (p.Leu545fs)

dbSNP: rs886039399
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255383 SCV000321809 pathogenic not provided 2023-07-27 criteria provided, single submitter clinical testing Identified in a patient with Kabuki syndrome in published literature (Banka et al., 2012); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22126750, 34365617)
Baylor Genetics RCV003147432 SCV003835766 pathogenic Kabuki syndrome 1 2022-10-20 criteria provided, single submitter clinical testing

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