ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16338+1G>T

dbSNP: rs1555184782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659833 SCV000781696 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
3billion RCV000659833 SCV005906103 pathogenic Kabuki syndrome 1 2023-08-25 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with KMT2D related disorder (ClinVar ID: VCV000547509 /PMID: 23913813). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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