ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11755C>T (p.Gln3919Ter)

dbSNP: rs1555188501
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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 RCV000546328 SCV000636633 pathogenic Kabuki syndrome 2016-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 3919 (p.Gln3919*) of the KMT2D gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in KMT2D are known to be pathogenic (PMID: 24633898). For these reasons, this variant has been classified as Pathogenic.

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