Submissions for variant NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)

gnomAD frequency: 0.00822  dbSNP: rs36210417

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171794	SCV000050802	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000171794	SCV000223209	benign	not specified	2016-10-12	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.
Invitae	RCV000206487	SCV000261359	benign	Long QT syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250415	SCV000318401	benign	Cardiovascular phenotype	2015-05-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000625128	SCV000447219	likely benign	Cardiac arrhythmia, ankyrin-B-related	2018-01-13	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000589694	SCV000602497	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589694	SCV000697749	likely benign	not provided	2016-12-19	criteria provided, single submitter	clinical testing	Variant summary: The ANK2 c.9854T>C (p.Ile3285Thr) variant involves the alteration of a conserved nucleotide. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 996/121056 control chromosomes (8 homozygotes) at a frequency of 0.0082276, which is approximately 823 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), strong evidence that this variant is a benign polymorphism. The variant has been reported in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as likely benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625128	SCV000743828	likely benign	Cardiac arrhythmia, ankyrin-B-related	2014-10-09	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852978	SCV000995727	benign	Atrial fibrillation; Cardiomyopathy	2019-04-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625128	SCV002525083	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000625128	SCV002798670	likely benign	Cardiac arrhythmia, ankyrin-B-related	2022-04-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000589694	SCV003916909	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ANK2: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000171794	SCV001924256	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171794	SCV001952982	benign	not specified		no assertion criteria provided	clinical testing