Submissions for variant NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)

dbSNP: rs1555525088

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000522776	SCV000619438	pathogenic	not provided	2023-07-10	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 at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000522776	SCV001150899	likely pathogenic	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001223320	SCV001395462	pathogenic	KBG syndrome	2023-11-27	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg2328Profs*204) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ANKRD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 450818). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago	RCV000522776	SCV002064428	pathogenic	not provided	2017-07-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001223320	SCV003815409	likely pathogenic	KBG syndrome	2022-03-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Strasbourg University Hospital	RCV001249518	SCV001423508	pathogenic	Intellectual disability	2019-12-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000522776	SCV001800774	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000522776	SCV001809670	pathogenic	not provided		no assertion criteria provided	clinical testing