ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.1177G>T (p.Ala393Ser)

dbSNP: rs147458476
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246914 SCV001420306 uncertain significance Long QT syndrome 2019-11-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ANK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 393 of the ANK2 protein (p.Ala393Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.
Ambry Genetics RCV004639535 SCV005138570 uncertain significance Cardiovascular phenotype 2024-06-09 criteria provided, single submitter clinical testing The p.A393S variant (also known as c.1177G>T), located in coding exon 11 of the ANK2 gene, results from a G to T substitution at nucleotide position 1177. The alanine at codon 393 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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.