ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) (rs36210417)

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Total submissions: 11
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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 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250415 SCV000318401 benign Cardiovascular phenotype 2015-05-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,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 RCV001282745 SCV000602497 benign none provided 2020-01-20 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
Clinical Genetics,Academic Medical Center RCV000171794 SCV001924256 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000171794 SCV001952982 benign not specified no assertion criteria provided clinical testing

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