ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) (rs116128106)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229379 SCV000286247 benign Long QT syndrome 2020-11-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094842 SCV000447177 likely benign Cardiac arrhythmia, ankyrin B-related 2018-01-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587944 SCV000697725 benign not provided 2016-04-04 criteria provided, single submitter clinical testing Variant summary: The ANK2 c.4152T>C variant affects a non-conserved nucleotide, resulting in no amino acid change. Although Mutation Taster predicts damaging outcome for this variant, 5/5 Alamut algorithms predict no change to splicing. This variant was found in 177/121352 control chromosomes at a frequency of 0.0014586, which is about 146 times the maximal expected allele frequency for a pathogenic ANK2 variant (0.00001), suggesting this variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as benign.
Ambry Genetics RCV000620820 SCV000737431 likely benign Cardiovascular phenotype 2016-12-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000587944 SCV000885009 benign not provided 2017-12-12 criteria provided, single submitter clinical testing

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