ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2341G>A (p.Glu781Lys)

dbSNP: rs2151165708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255819 SCV002529359 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter curation
Ambry Genetics RCV002255819 SCV003863779 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-16 criteria provided, single submitter clinical testing The p.E781K variant (also known as c.2341G>A), located in coding exon 10 of the BLM gene, results from a G to A substitution at nucleotide position 2341. The glutamic acid at codon 781 is replaced by lysine, 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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