Submissions for variant NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)

gnomAD frequency: 0.00200  dbSNP: rs66785829

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV001841765	SCV000050752	likely benign	Cardiac arrhythmia	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000589585	SCV000166983	likely benign	not provided	2021-01-22	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31920912, 32164423, 24025405, 17242276, 27884173, 23631430, 23174487)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085479	SCV000218893	likely benign	Long QT syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589585	SCV000697720	likely benign	not provided	2017-03-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620213	SCV000735816	likely benign	Cardiovascular phenotype	2018-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852980	SCV000995729	benign	Familial dilated cardiomyopathy and peripheral neuropathy	2019-06-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150178	SCV001311191	uncertain significance	Cardiac arrhythmia, ankyrin-B-related	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV005400699	SCV001433359	likely benign	not specified	2025-04-08	criteria provided, single submitter	clinical testing	BS1;BS2;BP4
CeGaT Center for Human Genetics Tuebingen	RCV000589585	SCV003916911	likely benign	not provided	2025-04-01	criteria provided, single submitter	clinical testing	ANK2: PM5, BP4, BS2
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV001841765	SCV000089864	not provided	Cardiac arrhythmia		no assertion provided	literature only	This variant has been reported as associated with Cardiac arrhythmia in the following publications (PMID:17242276). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
PreventionGenetics, part of Exact Sciences	RCV003974947	SCV004791815	likely benign	ANK2-related disorder	2019-05-30	no assertion criteria provided	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).