ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2447T>A (p.Met816Lys)

gnomAD frequency: 0.00001  dbSNP: rs1896237707
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001239638 SCV001412526 uncertain significance Bloom syndrome 2023-07-10 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function. ClinVar contains an entry for this variant (Variation ID: 965240). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 816 of the BLM protein (p.Met816Lys).
Ambry Genetics RCV002447194 SCV002732724 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-10 criteria provided, single submitter clinical testing The p.M816K variant (also known as c.2447T>A), located in coding exon 11 of the BLM gene, results from a T to A substitution at nucleotide position 2447. The methionine at codon 816 is replaced by lysine, an amino acid with 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.
Natera, Inc. RCV001239638 SCV002088069 uncertain significance Bloom syndrome 2021-03-03 no assertion criteria provided clinical testing

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.