ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)

gnomAD frequency: 0.00172  dbSNP: rs66785829
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV001841765 SCV000050752 likely benign Cardiac arrhythmia 2013-06-24 criteria provided, single submitter research
GeneDx RCV000589585 SCV000166983 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31920912, 32164423, 24025405, 17242276, 27884173, 23631430, 23174487)
Invitae RCV001085479 SCV000218893 likely benign Long QT syndrome 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589585 SCV000697720 likely benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620213 SCV000735816 likely benign Cardiovascular phenotype 2018-12-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852980 SCV000995729 benign Familial dilated cardiomyopathy and peripheral neuropathy 2019-06-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001150178 SCV001311191 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256867 SCV001433359 uncertain significance Conduction disorder of the heart 2019-11-18 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV001841765 SCV000089864 not provided Cardiac arrhythmia no assertion provided literature only This variant has been reported as associated with Cardiac arrhythmia in the following publications (PMID:17242276). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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