Submissions for variant NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)

gnomAD frequency: 0.00022  dbSNP: rs148462839

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094931	SCV000447227	uncertain significance	Cardiac arrhythmia, ankyrin-B-related	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000857873	SCV000516123	likely benign	not provided	2021-10-04	criteria provided, single submitter	clinical testing
Invitae	RCV000380245	SCV000627608	likely benign	Long QT syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620985	SCV000738184	likely benign	Cardiovascular phenotype	2017-09-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000857873	SCV001154261	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	ANK2: BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000857873	SCV001477544	likely benign	not provided	2020-01-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002282123	SCV002572194	benign	not specified	2022-08-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950224	SCV004757834	likely benign	ANK2-related condition	2019-03-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).