Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017302 | SCV001178365 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-18 | criteria provided, single submitter | clinical testing | The c.1100_1131del32 pathogenic mutation, located in coding exon 7 of the MEN1 gene, results from a deletion of 32 nucleotides at nucleotide positions 1100 to 1131, causing a translational frameshift with a predicted alternate stop codon (p.V367Gfs*31). 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. |