ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1777A>C (p.Ile593Leu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002404001 SCV002713938 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-26 criteria provided, single submitter clinical testing The p.I593L variant (also known as c.1777A>C), located in coding exon 6 of the BLM gene, results from an A to C substitution at nucleotide position 1777. The isoleucine at codon 593 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.