ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)

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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 RCV002671327 SCV002985802 uncertain significance Bloom syndrome 2022-03-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 872 of the BLM protein (p.Lys872Glu). This variant is not present in population databases (gnomAD no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003375667 SCV004094420 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-08 criteria provided, single submitter clinical testing The p.K872E variant (also known as c.2614A>G), located in coding exon 12 of the BLM gene, results from an A to G substitution at nucleotide position 2614. The lysine at codon 872 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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