ClinVar Miner

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

gnomAD frequency: 0.00222  dbSNP: rs141191319
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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 RCV000171744 SCV000050747 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001082214 SCV000218673 benign Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000171744 SCV000512039 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26230511, 23861362, 23396983, 28465117)
Ambry Genetics RCV000621823 SCV000735256 benign Cardiovascular phenotype 2018-04-24 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.
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 Laboratory Services, 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.
CeGaT Center for Human Genetics Tuebingen RCV000171744 SCV004148744 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ANK2: BP4, BS1
Clinical Genetics, Academic Medical Center RCV000426638 SCV001918918 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000171744 SCV001952384 likely benign not provided no assertion criteria provided clinical testing

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