ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)

gnomAD frequency: 0.00001  dbSNP: rs1422513540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628646 SCV000749550 uncertain significance Bloom syndrome 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 936 of the BLM protein (p.Asn936Asp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 524782). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV001016635 SCV001177608 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-02 criteria provided, single submitter clinical testing The p.N936D variant (also known as c.2806A>G), located in coding exon 13 of the BLM gene, results from an A to G substitution at nucleotide position 2806. The asparagine at codon 936 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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.
Sema4, Sema4 RCV001016635 SCV002529536 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-19 criteria provided, single submitter curation
GeneDx RCV003322798 SCV004028161 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000628646 SCV001461108 uncertain significance Bloom syndrome 2020-01-24 no assertion criteria provided clinical testing

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