ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.1A>T (p.Met1Leu)

dbSNP: rs143951267
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
CeGaT Center for Human Genetics Tuebingen RCV001310994 SCV001501002 pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000006497 SCV005835410 pathogenic Diamond-Blackfan anemia 10 2024-10-28 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the RPS26 mRNA. The next in-frame methionine is located at codon 115. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 20116044, 26136524). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 6123). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006497 SCV000026680 pathogenic Diamond-Blackfan anemia 10 2010-02-12 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.