ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1715A>G (p.His572Arg)

dbSNP: rs763355238
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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 RCV001294326 SCV001483199 uncertain significance Bloom syndrome 2024-07-18 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 572 of the BLM protein (p.His572Arg). This variant is present in population databases (rs763355238, gnomAD 0.005%). 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: 998465). 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 RCV002402815 SCV002713570 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-08 criteria provided, single submitter clinical testing The p.H572R variant (also known as c.1715A>G), located in coding exon 6 of the BLM gene, results from an A to G substitution at nucleotide position 1715. The histidine at codon 572 is replaced by arginine, 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.
Natera, Inc. RCV001294326 SCV002092388 uncertain significance Bloom syndrome 2020-09-01 no assertion criteria provided clinical testing

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