Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197702 | SCV000253734 | pathogenic | Familial adenomatous polyposis 1 | 2015-08-31 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide in exon 8 of the APC mRNA (c.791delA), causing a frameshift at codon 265. This creates a premature translational stop signal (p.Gly265Glufs*28) and is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000197702 | SCV000838069 | pathogenic | Familial adenomatous polyposis 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000197702 | SCV002153302 | pathogenic | Familial adenomatous polyposis 1 | 2015-08-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular sequence change has not been reported in the literature, truncating sequence changes in APC are known to be pathogenic (PMID: 20685668, 17963004). This sequence change deletes 1 nucleotide in exon 8 of the APC mRNA (c.791delA), causing a frameshift at codon 265. This creates a premature translational stop signal (p.Gly265Glufs*28) and is expected to result in an absent or disrupted protein product. |