Submissions for variant NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)

dbSNP: rs1555193738

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659731	SCV000781579	likely pathogenic	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000659731	SCV001149820	pathogenic	Kabuki syndrome 1	2019-05-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090721	SCV001246407	pathogenic	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Invitae	RCV001390430	SCV001592162	pathogenic	Kabuki syndrome	2023-03-24	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547432). This variant is also known as c.5627delACAG p.D1876GfsX37. This premature translational stop signal has been observed in individual(s) with clinical features of Kabuki syndrome (PMID: 22126750, 27302555, 32441320). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1876Glyfs*38) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750).
Provincial Medical Genetics Program of British Columbia, University of British Columbia	RCV000659731	SCV002320865	pathogenic	Kabuki syndrome 1	2022-01-01	criteria provided, single submitter	clinical testing
Autoinflammatory diseases unit, CHU de Montpellier	RCV000659731	SCV001438176	pathogenic	Kabuki syndrome 1	2015-07-08	no assertion criteria provided	clinical testing