ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2171T>C (p.Val724Ala)

gnomAD frequency: 0.00002  dbSNP: rs750687788
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 RCV000687130 SCV000814682 uncertain significance Bloom syndrome 2024-12-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 724 of the BLM protein (p.Val724Ala). This variant is present in population databases (rs750687788, gnomAD 0.003%). 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: 567134). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BLM protein function with a positive predictive value of 80%. 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 RCV001014667 SCV001175404 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-02 criteria provided, single submitter clinical testing The p.V724A variant (also known as c.2171T>C), located in coding exon 8 of the BLM gene, results from a T to C substitution at nucleotide position 2171. The valine at codon 724 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV001014667 SCV002529248 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-18 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117489 SCV003801032 uncertain significance not specified 2023-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000687130 SCV001461836 uncertain significance Bloom syndrome 2020-09-16 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.