ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2281A>G (p.Lys761Glu)

dbSNP: rs1555420599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572987 SCV000672997 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-07 criteria provided, single submitter clinical testing The p.K761E variant (also known as c.2281A>G), located in coding exon 9 of the BLM gene, results from an A to G substitution at nucleotide position 2281. The lysine at codon 761 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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