ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8478_8488del (p.Thr2827fs)

dbSNP: rs1565789522
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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 RCV000699730 SCV000828454 pathogenic Kabuki syndrome 2018-04-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2827Ilefs*14) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KMT2D-related disease. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic.

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