ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)

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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 RCV003082865 SCV003482717 uncertain significance Bloom syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1207 of the BLM protein (p.Lys1207Glu). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004073242 SCV005023490 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-10 criteria provided, single submitter clinical testing The p.K1207E variant (also known as c.3619A>G), located in coding exon 18 of the BLM gene, results from an A to G substitution at nucleotide position 3619. The lysine at codon 1207 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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.

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