ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3367C>T (p.Gln1123Ter)

dbSNP: rs1580634617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020107 SCV001181540 pathogenic Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing The p.Q1123* pathogenic mutation (also known as c.3367C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 3367. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This alteration has been reported in multiple probands affected by familial adenomatous polyposis (FAP) (Resta N et al. Hum. Mutat., 2001 May;17:434-5; De Rosa M et al. Hum. Mutat., 2004 May;23:523-4; Rivera B et al. Ann. Oncol., 2011 Apr;22:903-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV004563673 SCV004043632 pathogenic Familial adenomatous polyposis 1 2023-05-08 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.

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