ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1881+8C>G

gnomAD frequency: 0.00612  dbSNP: rs74976371
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094783 SCV000447152 benign Cardiac arrhythmia, ankyrin-B-related 2018-01-12 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000338426 SCV000557235 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505943 SCV000602496 benign not specified 2017-01-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000505943 SCV000918423 benign not specified 2018-02-05 criteria provided, single submitter clinical testing Variant summary: ANK2 c.1881+8C>G alters a non-conserved intronic nucleotide in intron 17 of the ANK2 gene. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be functionally assessed. The variant allele was found at a frequency of 0.0018 in 277002 control chromosomes in the gnomAD database, including 4 homozygotes. The observed variant frequency is approximately 183-folds higher than 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, the variant, c.1881+8C>G, has not been reported in affected individuals via publications. Multiple clinical diagnostic laboratories have ClinVar submissions (after 2014) with classifications of "likely benign/benign." Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001706559 SCV001831633 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094783 SCV002525002 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing

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