ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) (rs141191319)

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Total submissions: 8
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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 RCV000171744 SCV000050747 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001082214 SCV000218673 benign Long QT syndrome 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000426638 SCV000512039 likely benign not specified 2017-10-23 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.
Ambry Genetics RCV000621823 SCV000735256 benign Cardiovascular phenotype 2018-04-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625125 SCV000743825 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 RCV000852972 SCV000995721 likely benign Brugada syndrome 2018-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625125 SCV001310935 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000426638 SCV001426961 benign not specified 2020-07-06 criteria provided, single submitter clinical testing Variant summary: ANK2 c.7132G>A (p.Glu2378Lys) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0023 in 250666 control chromosomes in the gnomAD database, including 1 homozygote. The observed variant frequency is approximately 230-fold of the estimated maximal expected allele frequency for a pathogenic variant in ANK2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.7132G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as benign (2x), likely benign (2x) or VUS. Based on the evidence outlined above, the variant was classified as benign.

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