Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000568686 | SCV000675894 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-04-12 | criteria provided, single submitter | clinical testing | The c.524_531+4del12 pathogenic mutation, located at the 3' end of coding exon 4 in the APC gene, results from a deletion of 8 coding nucleotides and 4 intronic nucleotides at positions c.524 to c.531+4. Since both frameshifts and canonical splice donor site disruptions are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV003534486 | SCV000836216 | likely pathogenic | Familial adenomatous polyposis 1 | 2019-05-31 | criteria provided, single submitter | clinical testing | This variant is a deletion of the genomic region encompassing part of exon 5 (c.524_531+4del) of the APC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 217993). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Mayo Clinic Laboratories, |
RCV000202212 | SCV000257011 | likely pathogenic | not provided | no assertion criteria provided | research |