ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu)

dbSNP: rs1897216087
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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 RCV001298724 SCV001487790 uncertain significance Bloom syndrome 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1152 of the BLM protein (p.Asp1152Glu). This variant is not present in population databases (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: 1002312). 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 RCV004601437 SCV005100100 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-11 criteria provided, single submitter clinical testing The p.D1152E variant (also known as c.3456C>G), located in coding exon 17 of the BLM gene, results from a C to G substitution at nucleotide position 3456. The aspartic acid at codon 1152 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001298724 SCV002090572 uncertain significance Bloom syndrome 2020-07-02 no assertion criteria provided clinical testing

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