Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491181 | SCV000579827 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-08-01 | criteria provided, single submitter | clinical testing | The c.93delC pathogenic mutation, located in coding exon 1 of the APC gene, results from a deletion of one nucleotide at nucleotide position 93, causing a translational frameshift with a predicted alternate stop codon (p.N32Ifs*13). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. However, alterations that result in premature termination in coding exon 1 are associated with an attenuated phenotype and may have reduced penetrance compared to classic familial adenomatous polyposis syndrome. Clinical correlation is advised |