ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003038650 SCV003324496 uncertain significance Bloom syndrome 2022-03-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 402 of the BLM protein (p.Gln402Glu). 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.
Ambry Genetics RCV004603273 SCV005101895 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The p.Q402E variant (also known as c.1204C>G), located in coding exon 5 of the BLM gene, results from a C to G substitution at nucleotide position 1204. The glutamine at codon 402 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.

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