ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.211T>A (p.Phe71Ile)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002814616 SCV003198402 uncertain significance Bloom syndrome 2022-05-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 71 of the BLM protein (p.Phe71Ile).
Ambry Genetics RCV004064867 SCV005022250 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-28 criteria provided, single submitter clinical testing The p.F71I variant (also known as c.211T>A), located in coding exon 2 of the BLM gene, results from a T to A substitution at nucleotide position 211. The phenylalanine at codon 71 is replaced by isoleucine, 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.