ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)

gnomAD frequency: 0.00001  dbSNP: rs922800309
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
Mendelics RCV000988124 SCV001137717 likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002549702 SCV002971428 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 240 of the GPAA1 protein (p.Glu240Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GPAA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 802446). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000988124 SCV003807356 uncertain significance Glycosylphosphatidylinositol biosynthesis defect 15 2022-10-07 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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.