ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3272A>G (p.His1091Arg)

dbSNP: rs750954124
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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 RCV000226325 SCV000283135 uncertain significance Bloom syndrome 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1091 of the BLM protein (p.His1091Arg). This variant is present in population databases (rs750954124, gnomAD no frequency). 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: 236814). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Genetic Services Laboratory, University of Chicago RCV000499533 SCV000593641 uncertain significance not specified 2017-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444878 SCV002612550 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-06 criteria provided, single submitter clinical testing The p.H1091R variant (also known as c.3272A>G), located in coding exon 16 of the BLM gene, results from an A to G substitution at nucleotide position 3272. The histidine at codon 1091 is replaced by arginine, 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. RCV000226325 SCV001456892 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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