ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1772G>A (p.Arg591Gln)

gnomAD frequency: 0.00001  dbSNP: rs28385012
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707740 SCV000836850 uncertain significance Bloom syndrome 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 591 of the BLM protein (p.Arg591Gln). This variant is present in population databases (rs28385012, gnomAD 0.01%). 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: 583411). 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 with a negative 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 RCV002397495 SCV002713912 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-26 criteria provided, single submitter clinical testing The p.R591Q variant (also known as c.1772G>A), located in coding exon 6 of the BLM gene, results from a G to A substitution at nucleotide position 1772. The arginine at codon 591 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV000707740 SCV005640439 uncertain significance Bloom syndrome 2024-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000707740 SCV002092394 uncertain significance Bloom syndrome 2018-10-23 no assertion criteria provided clinical testing

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