Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570097 | SCV000667317 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-01 | criteria provided, single submitter | clinical testing | The p.G101* pathogenic mutation (also known as c.301G>T), located in coding exon 3 of the APC gene, results from a G to T substitution at nucleotide position 301. This changes the amino acid from a glycine to a stop codon within coding exon 3. This alteration has been reported in familial adenomatous polyposis patients (Kraus C et al. Mol Cell Probes, 1998 Jun;12:143-7; Kerr SE et al. J Mol Diagn, 2013 Jan;15:31-43). In addition to the clinical data presented in the literature, 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. |
Invitae | RCV003534480 | SCV002247223 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217958). This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (PMID: 9664575). This sequence change creates a premature translational stop signal (p.Gly101*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). |
Myriad Genetics, |
RCV002517325 | SCV004044910 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-25 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Baylor Genetics | RCV002517325 | SCV004200463 | pathogenic | Familial adenomatous polyposis 1 | 2021-06-29 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000202070 | SCV000256961 | likely pathogenic | not provided | no assertion criteria provided | research |