ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)

dbSNP: rs797045221
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
General Neurology and Ataxia Unit, Universidade Federal de Sao Paulo - Escola Paulista de Medicina RCV001787700 SCV002031293 likely pathogenic Spinocerebellar ataxia type 28 2021-11-01 criteria provided, single submitter clinical testing NM_006796.3(AFG3L2):c.2062C>A;p.(Pro688Thr) is a missense variant located within the peptidase-M41 domain of the protein, a common site of missense variants that cause autosomal dominant spinocerebellar ataxia (PMID: 20725928). This variant is absent from population databases (gnomAD, ABraOM). Previously, variants in the same amino acid where reported as disease-causing (p.P688A - PMID: 28444220; p.P688S - ClinVar Variation ID: 987295). In silico prediction tools agree on disease-causing effect of the protein (REVEL, MetaLR, MetaSVM, MetaRNN).
GeneReviews RCV001787700 SCV002562251 not provided Spinocerebellar ataxia type 28 no assertion provided literature only

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.