ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.112G>A (p.Gly38Ser)

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
Ambry Genetics RCV003310118 SCV004001594 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-04 criteria provided, single submitter clinical testing The p.G38S variant (also known as c.112G>A), located in coding exon 1 of the RB1 gene, results from a G to A substitution at nucleotide position 112. The glycine at codon 38 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009701 SCV004827495 uncertain significance Retinoblastoma 2023-05-31 criteria provided, single submitter clinical testing

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.