ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1992C>T (p.Gly664=)

dbSNP: rs886043359
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
Eurofins Ntd Llc (ga) RCV000358104 SCV000339651 uncertain significance not provided 2016-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021197 SCV005022237 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-02 criteria provided, single submitter clinical testing The c.1992C>T variant (also known as p.G664G), located in coding exon 7 of the BLM gene, results from a C to T substitution at nucleotide position 1992. This nucleotide substitution does not change the glycine at codon 664. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. 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.