Submissions for variant NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)

dbSNP: rs764501022

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Human Genetics, University Hospital Essen	RCV001376680	SCV001478039	pathogenic	Global developmental delay	2021-01-22	criteria provided, single submitter	research
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	RCV003399060	SCV004123112	pathogenic	KBG syndrome	2023-11-16	criteria provided, single submitter	clinical testing	The variant in affected individuals is heterozygous. Their parents are not carriers. The affected individual has cognitive deficit, intellectual disability, atypical autism, mental retardation and epilepsy. In summary, the variant meets our criteria to be classified as likely pathogenic.
PreventionGenetics, part of Exact Sciences	RCV003898274	SCV004714268	pathogenic	ANKRD11-related disorder	2023-10-22	no assertion criteria provided	clinical testing	The ANKRD11 c.4218C>A variant is predicted to result in premature protein termination (p.Tyr1406*). This variant was reported de novo in an individual with KBG syndrome (Parenti et al. 2021. PubMed ID: 33955014). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in ANKRD11 are expected to be pathogenic. This variant is interpreted as pathogenic.