ClinVar Miner

Submissions for variant NM_000038.6(APC):c.562C>T (p.Gln188Ter)

dbSNP: rs869312753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210089 SCV000266009 pathogenic Colorectal cancer, susceptibility to 2015-11-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563140 SCV004043245 pathogenic Familial adenomatous polyposis 1 2023-04-26 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.
Ambry Genetics RCV004649098 SCV005141832 pathogenic Hereditary cancer-predisposing syndrome 2024-03-28 criteria provided, single submitter clinical testing The p.Q188* pathogenic mutation (also known as c.562C>T), located in coding exon 5 of the APC gene, results from a C to T substitution at nucleotide position 562. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This alteration has been reported in multiple individuals with colonic polyposis (Ambry internal data; Moisio AL et al. Gut, 2002 Jun;50:845-50; Lagarde A et al. J Med Genet, 2010 Oct;47:721-2; Shirts BH et al. Genet Med, 2016 Oct;18:974-81). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501976 SCV000591040 uncertain significance not provided no assertion criteria provided clinical testing

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