Submissions for variant NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)

dbSNP: rs886041856

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000392937	SCV000330636	pathogenic	not provided	2016-07-05	criteria provided, single submitter	clinical testing	The R1101X pathogenic variant in the KMT2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1101X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R1101X as a pathogenic variant.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV001254088	SCV001430007	pathogenic	Wiedemann-Steiner syndrome	2020-02-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001267617	SCV001445799	pathogenic	Inborn genetic diseases	2018-10-17	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV001254088	SCV001448925	likely pathogenic	Wiedemann-Steiner syndrome	2018-08-10	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001254088	SCV003818844	pathogenic	Wiedemann-Steiner syndrome	2022-08-16	criteria provided, single submitter	clinical testing
Laboratory of Molecular Genetics, CHU RENNES	RCV000415284	SCV000493085	likely pathogenic	intellectual deficiency		no assertion criteria provided	clinical testing