ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met)

gnomAD frequency: 0.00004  dbSNP: rs370472530
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631625 SCV000752708 uncertain significance Long QT syndrome 2024-09-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 3501 of the ANK2 protein (p.Ile3501Met). This variant is present in population databases (rs370472530, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 526955). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002404740 SCV002708124 likely benign Cardiovascular phenotype 2021-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002477381 SCV002781117 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-07-05 criteria provided, single submitter clinical testing
GeneDx RCV003227812 SCV003924598 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015); This variant is associated with the following publications: (PMID: 1830053, 18790697, 26109584)
Breakthrough Genomics, Breakthrough Genomics RCV003227812 SCV005190240 uncertain significance not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.