ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1401A>G (p.Ala467=) (rs142159132)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234501 SCV000286234 benign Long QT syndrome 2020-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625118 SCV000447151 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 RCV000586416 SCV000697727 benign not provided 2017-02-20 criteria provided, single submitter clinical testing Variant summary: The ANK2 c.1401A>G (p.Ala467Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of ESE sites. These predictions have not been confirmed by functional studies. This variant was found in 99/23776 control chromosomes (including one homozygote) at a frequency of 0.0041639, which is approximately 416 times the estimated maximal expected allele frequency of a pathogenic ANK2 variant (0.00001), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory has classified this variant as benign. Taken together, this variant is classified as Benign.
Ambry Genetics RCV000620406 SCV000737411 benign Cardiovascular phenotype 2015-06-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625118 SCV000743815 benign Cardiac arrhythmia, ankyrin B-related 2016-11-04 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625118 SCV000745234 likely benign Cardiac arrhythmia, ankyrin B-related 2017-06-28 criteria provided, single submitter clinical testing

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