ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3743A>G (p.Lys1248Arg)

dbSNP: rs1555424404
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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 RCV001021023 SCV001182585 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-30 criteria provided, single submitter clinical testing The p.K1248R variant (also known as c.3743A>G), located in coding exon 18 of the BLM gene, results from an A to G substitution at nucleotide position 3743. The lysine at codon 1248 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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