ClinVar Miner

Submissions for variant NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr)

gnomAD frequency: 0.00021  dbSNP: rs200021943
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000606397 SCV000745385 uncertain significance Cayman type cerebellar ataxia 2017-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531734 SCV003725399 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.442G>A (p.A148T) alteration is located in exon 5 (coding exon 4) of the ATCAY gene. This alteration results from a G to A substitution at nucleotide position 442, causing the alanine (A) at amino acid position 148 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606397 SCV000733885 uncertain significance Cayman type cerebellar ataxia no assertion criteria provided 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.