ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3076A>G (p.Met1026Val)

gnomAD frequency: 0.00001  dbSNP: rs766225961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245944 SCV001419270 uncertain significance Bloom syndrome 2023-02-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1026 of the BLM protein (p.Met1026Val). This variant is present in population databases (rs766225961, gnomAD 0.002%). 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: 970379). 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. 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.
GeneDx RCV002281179 SCV002569501 uncertain significance not provided 2022-03-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002319682 SCV002606801 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-22 criteria provided, single submitter clinical testing The p.M1026V variant (also known as c.3076A>G), located in coding exon 15 of the BLM gene, results from an A to G substitution at nucleotide position 3076. The methionine at codon 1026 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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