ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) (rs76685232)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085742 SCV000286245 benign Long QT syndrome 2020-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586886 SCV000697736 benign not provided 2016-04-04 criteria provided, single submitter clinical testing Variant summary: The vriant affects a non-conserved nucleotide and results in synonymous mutation. Mutation taster predicts a disease causing outcome for this change while 5/5 in silico tools via Alamut predict no impact on splicing. The variant was observed in the large and broad cohorts of the NHLBI-ES and ExAC projects at an allele frequency of 0.15% which greatly exceeds (~150 times) the maximal expected allele frequency of a disease causing ANK2 allele (0.001%), strongly supporting a benign nature for the variant. Based on the high allele frequency in the general population, the variant was classified as Benign.
Ambry Genetics RCV000620603 SCV000737428 likely benign Cardiovascular phenotype 2017-08-31 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000586886 SCV000885008 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001145403 SCV001306073 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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