Submissions for variant NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)

dbSNP: rs1588354762

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000998267	SCV001154238	likely pathogenic	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000998267	SCV001448922	pathogenic	not provided	2019-07-08	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV000998267	SCV002502754	likely pathogenic	not provided	2021-09-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160150	SCV003856551	pathogenic	Cardiovascular phenotype	2022-12-21	criteria provided, single submitter	clinical testing	The p.R982* pathogenic mutation (also known as c.2944C>T), located in coding exon 27 of the ANK2 gene, results from a C to T substitution at nucleotide position 2944. This changes the amino acid from an arginine to a stop codon within coding exon 27. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on the supporting evidence, this variant is expected to be causative of ANK2-related neurodevelopmental disorder. However, the evidence for the gene-disease relationship is limited for cardiac disease; therefore, the clinical significance of this alteration for ANK2-related arrhythmia is unclear.