ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)

gnomAD frequency: 0.00002  dbSNP: rs553512431
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095774 SCV001251618 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2020-01-09 criteria provided, single submitter clinical testing The SETX c.4853C>G (p.Ser1618Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Ser1618Ter variant is reported at a frequency of 0.000120 in the African population of the Genome Aggregation Database. Based on the predicted truncating nature of the variant, its rarity, identification in a homozygous state and application of the ACMG criteria, the p.Ser1618Ter variant is classified as pathogenic for autosomal recessive ataxia with oculomotor apraxia type 2.

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.