ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2725C>G (p.Gln909Glu)

dbSNP: rs1456964727
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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 RCV001247829 SCV001421275 uncertain significance Bloom syndrome 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 909 of the BLM protein (p.Gln909Glu). This variant is present in population databases (no rsID available, 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: 971925). 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 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 RCV002451614 SCV002738678 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-03 criteria provided, single submitter clinical testing The p.Q909E variant (also known as c.2725C>G), located in coding exon 13 of the BLM gene, results from a C to G substitution at nucleotide position 2725. The glutamine at codon 909 is replaced by glutamic acid, an amino acid with highly 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. RCV001247829 SCV002088110 uncertain significance Bloom syndrome 2019-01-27 no assertion criteria provided clinical testing

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