ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.570C>T (p.Asn190=)

gnomAD frequency: 0.00368  dbSNP: rs12720444
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533539 SCV000646995 benign Atrial fibrillation, familial, 7 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000533539 SCV001267718 uncertain significance Atrial fibrillation, familial, 7 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000533539 SCV001472712 benign Atrial fibrillation, familial, 7 2020-02-24 criteria provided, single submitter clinical testing
GeneDx RCV001539333 SCV001757093 benign not provided 2018-10-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323608 SCV004029418 benign not specified 2023-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001539333 SCV004132398 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KCNA5: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003925668 SCV004746143 benign KCNA5-related condition 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.