ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.11718G>A (p.Arg3906=) (rs35724152)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199294 SCV000252750 benign Long QT syndrome 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621817 SCV000735843 likely benign Cardiovascular phenotype 2017-04-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779696 SCV000916448 benign not specified 2018-02-05 criteria provided, single submitter clinical testing Variant summary: ANK2 c.11718G>A alters a non-conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a cryptic exonic 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00042 in 276830 control chromosomes in gnomAD. The observed variant frequency is approximately 41.9 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.11718G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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