ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.470T>C (p.Met157Thr)

gnomAD frequency: 0.00001  dbSNP: rs773103759
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809366 SCV000949516 uncertain significance Bloom syndrome 2024-08-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 157 of the BLM protein (p.Met157Thr). This variant is present in population databases (rs773103759, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 653573). 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. 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.
Ambry Genetics RCV002336659 SCV002635850 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-16 criteria provided, single submitter clinical testing The c.470T>C (p.M157T) alteration is located in exon 3 (coding exon 2) of the BLM gene. This alteration results from a T to C substitution at nucleotide position 470, causing the methionine (M) at amino acid position 157 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004721628 SCV005328086 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004721628 SCV005624285 uncertain significance not provided 2024-07-08 criteria provided, single submitter clinical testing The BLM c.470T>C (p.Met157Thr) variant has not been reported in individuals with BLM-related conditions in the published literature. The frequency of this variant in the general population, 0.00023 (8/34560 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV000809366 SCV002089933 uncertain significance Bloom syndrome 2018-10-23 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.