ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)

dbSNP: rs786200936
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002512845 SCV003443917 likely pathogenic Diamond-Blackfan anemia 2022-01-12 criteria provided, single submitter clinical testing This missense change has been observed in individuals with clinical features of Diamond-Blackfan anemia (PMID: 10590074, 31574871; Invitae). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 127 of the RPS19 protein (p.Gly127Glu). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 6320). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects RPS19 function (PMID: 12586610, 17517689, 18768533). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000033189 SCV000057025 pathogenic Diamond-Blackfan anemia 1 2007-07-15 no assertion criteria provided literature only

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.