ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12811_12814del (p.Thr4271fs)

dbSNP: rs1592116886
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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 RCV000804438 SCV000944349 pathogenic Kabuki syndrome 2018-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr4271Alafs*6) 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 been observed in an individual affected with Kabuki syndrome (PMID: 27302555). 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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