ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2464+1G>A

dbSNP: rs774632615
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001265552 SCV001443706 likely pathogenic SPTA1-related disorder criteria provided, single submitter clinical testing This variant affects the canonical splice donor site of intron 17 of 51 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. Based on the available evidence, the c.2464+1G>A variant is classified as Likely Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001508909 SCV001715345 likely pathogenic not provided 2020-09-10 criteria provided, single submitter clinical testing PVS1, PM2
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003796 SCV001162240 likely pathogenic Anemia no assertion criteria provided research

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.