Submissions for variant NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)

dbSNP: rs1555196984

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659702	SCV000781549	likely pathogenic	Kabuki syndrome 1	2016-11-01	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV000659702	SCV002556666	pathogenic	Kabuki syndrome 1	2021-12-14	criteria provided, single submitter	clinical testing	The KMT2D c.2263dup variant is located in exon 11/55 and is predicted to cause a shift in the reading frame at codon 755, resulting in premature termination and likely non-sense mediated decay of the resulting protein product (PVS1). This variant has been identified as a de novo variant in this patient with no family history of this condition and de novo variants are a known mechanism of disease (PS2). This variant is absent from population databases (PM2). The variant has been reported in dbSNP (rs1555196984). The variant has been reported as Likely pathogenic by other diagnostic laboratories (ClinVar Variation ID: 547407). This variant has not been reported in the HGMD disease database.
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	RCV000659702	SCV003844080	likely pathogenic	Kabuki syndrome 1	2021-09-30	no assertion criteria provided	research