Submissions for variant NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs)

dbSNP: rs1597464953

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	RCV000782091	SCV000920562	likely pathogenic	not provided	2019-02-13	criteria provided, single submitter	clinical testing
Invitae	RCV001056651	SCV001221104	pathogenic	KBG syndrome	2019-02-07	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). This variant has been observed in several individuals affected with KBG syndrome (PMID: 27605097, 27667800). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu461Glnfs*48) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics	RCV001266760	SCV001444937	pathogenic	Inborn genetic diseases	2018-12-13	criteria provided, single submitter	clinical testing
Institute for Human Genetics, University Hospital Essen	RCV001376683	SCV001478042	pathogenic	Global developmental delay	2021-01-22	criteria provided, single submitter	research
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	RCV001056651	SCV002097365	pathogenic	KBG syndrome	2021-11-01	criteria provided, single submitter	research
GeneDx	RCV000782091	SCV002512864	pathogenic	not provided	2021-03-26	criteria provided, single submitter	clinical testing	Frameshift 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27605097, 30577886, 27667800, 33955014)
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV001056651	SCV003927867	pathogenic	KBG syndrome	2023-04-01	no assertion criteria provided	clinical testing