ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3704del (p.Gly1235fs)

dbSNP: rs1364500207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695487 SCV000823990 pathogenic Kabuki syndrome 2018-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has not been reported in the literature in individuals with KMT2D-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1235Valfs*95) in the KMT2D gene. It is expected to result in an absent or disrupted protein product.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269551 SCV001449615 pathogenic not provided 2015-10-21 criteria provided, single submitter clinical testing

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