Submissions for variant NM_014391.3(ANKRD1):c.208-16C>T

gnomAD frequency: 0.00161  dbSNP: rs79793575

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123653	SCV000166992	benign	not specified	2014-04-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586701	SCV000699376	benign	not provided	2017-07-31	criteria provided, single submitter	clinical testing	Variant summary: The ANKRD1 c.208-16C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 547/108416 control chromosomes (19 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.067417 (509/7550; 18 homozygotes). This frequency is about 1961 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, one clinical diagnostic laboratory has classified this variant as benign. It has also been published as a polymorphism in the literature (Arimura_2009). Taken together, this variant is classified as benign.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612863	SCV000745112	benign	Congenital total pulmonary venous return anomaly	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055415	SCV002376011	benign	ANKRD1-related dilated cardiomyopathy	2025-01-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612863	SCV000732973	likely benign	Congenital total pulmonary venous return anomaly		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000123653	SCV001923493	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000123653	SCV001956500	benign	not specified		no assertion criteria provided	clinical testing