ClinVar Miner

Submissions for variant NM_002234.4(KCNA5):c.1043G>A (p.Ser348Asn)

dbSNP: rs755829081
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
Invitae RCV001324631 SCV001515591 uncertain significance Atrial fibrillation, familial, 7 2020-05-06 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 31727138). This variant is present in population databases (rs755829081, ExAC 0.01%). This sequence change replaces serine with asparagine at codon 348 of the KCNA5 protein (p.Ser348Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV001324631 SCV002816036 uncertain significance Atrial fibrillation, familial, 7 2021-08-15 criteria provided, single submitter clinical testing

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.