ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.731T>C (p.Ile244Thr)

gnomAD frequency: 0.00004  dbSNP: rs147754935
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533722 SCV000629343 benign Retinoblastoma 2023-11-24 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000533722 SCV000891026 uncertain significance Retinoblastoma 2016-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026275 SCV001188620 likely benign Hereditary cancer-predisposing syndrome 2023-01-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000533722 SCV004844626 likely benign Retinoblastoma 2023-06-15 criteria provided, single submitter clinical testing
GeneDx RCV004772958 SCV005383459 uncertain significance not provided 2024-02-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486, 35001307)

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.