ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.703G>A (p.Val235Met)

dbSNP: rs765696829
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
Ambry Genetics RCV001025961 SCV001188250 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-05 criteria provided, single submitter clinical testing The p.V235M variant (also known as c.703G>A), located in coding exon 2 of the BLM gene, results from a G to A substitution at nucleotide position 703. The valine at codon 235 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly 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.
Invitae RCV001222304 SCV001394398 uncertain significance Bloom syndrome 2023-05-01 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 826793). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is present in population databases (rs765696829, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 235 of the BLM protein (p.Val235Met).
Natera, Inc. RCV001222304 SCV002089964 uncertain significance Bloom syndrome 2020-07-26 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.