Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574589 | SCV000672983 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-02-17 | criteria provided, single submitter | clinical testing | The c.1500delT pathogenic mutation, located in coding exon 6 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 1500, causing a translational frameshift with a predicted alternate stop codon (p.F500Lfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |