ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) (rs1554764058)

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
OMIM RCV000522028 SCV000622107 pathogenic GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 2017-12-18 no assertion criteria provided literature only
SIB Swiss Institute of Bioinformatics RCV000522028 SCV000883157 likely pathogenic GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Glycosylphosphatidylinositol biosynthesis defect 15, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29100095). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM5 => Missense substitution changing Leu to Pro at a position adiacent to a residue where a likely pathogenic Leu to Pro change has been observed before.

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.