ClinVar Miner

Submissions for variant NM_000038.6(APC):c.301G>T (p.Gly101Ter)

dbSNP: rs863225335
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Total submissions: 5
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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, Inc. 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, Mayo Clinic RCV000202070 SCV000256961 likely pathogenic not provided no assertion criteria provided research

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