ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.409A>G (p.Lys137Glu)

dbSNP: rs890597009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021856 SCV001183524 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-11 criteria provided, single submitter clinical testing The p.K137E variant (also known as c.409A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 409. The lysine at codon 137 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved on limited sequence alignment. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005093217 SCV005824432 uncertain significance Bloom syndrome 2024-09-08 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 137 of the BLM protein (p.Lys137Glu). 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: 824588). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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