ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1852A>C (p.Asn618His)

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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 RCV002413033 SCV002717139 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 criteria provided, single submitter clinical testing The p.N618H variant (also known as c.1852A>C), located in coding exon 6 of the BLM gene, results from an A to C substitution at nucleotide position 1852. The asparagine at codon 618 is replaced by histidine, 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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