ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)

gnomAD frequency: 0.00001  dbSNP: rs1244649224
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
Invitae RCV000705545 SCV000834546 uncertain significance Bloom syndrome 2023-04-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 581653). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1007 of the BLM protein (p.Met1007Ile).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265866 SCV002548388 uncertain significance not specified 2022-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440537 SCV002753081 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-03 criteria provided, single submitter clinical testing The p.M1007I variant (also known as c.3021G>A), located in coding exon 15 of the BLM gene, results from a G to A substitution at nucleotide position 3021. The methionine at codon 1007 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.