Submissions for variant NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) (rs281865469)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000523815	SCV000617313	pathogenic	not provided	2021-12-20	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22544367, 26293599)
SIB Swiss Institute of Bioinformatics	RCV000024371	SCV000994930	pathogenic	Koolen-de Vries syndrome	2019-06-05	criteria provided, single submitter	curation	This variant is interpreted as a Pathogenic for Koolen-De Vries syndrome, autosomal dominant. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6: Assumed de novo, but without confirmation of paternity and maternity. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease.
Génétique des Maladies du Développement, Hospices Civils de Lyon	RCV001255390	SCV001431790	pathogenic	Global developmental delay	2019-11-01	criteria provided, single submitter	clinical testing
OMIM	RCV000024371	SCV000045664	pathogenic	Koolen-de Vries syndrome	2012-04-29	no assertion criteria provided	literature only
GeneReviews	RCV000024371	SCV000055761	pathologic	Koolen-de Vries syndrome	2012-11-20	no assertion criteria provided	curation	Converted during submission to Pathogenic.