ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3121C>T (p.Gln1041Ter)

dbSNP: rs1580631181
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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 RCV001018712 SCV001179981 pathogenic Hereditary cancer-predisposing syndrome 2017-12-20 criteria provided, single submitter clinical testing The p.Q1041* pathogenic mutation (also known as c.3121C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 3121. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This mutation has been identified in multiple unrelated patients with FAP or AFAP (Nagase H et al. Hum. Mutat. 1992;1:467-73; Miyaki M et al. Cancer Res. 1994 Jun;54:3011-20; Friedl W et al. Hered Cancer Clin Pract. 2005 Sep;3:95-114). 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.
Myriad Genetics, Inc. RCV003336251 SCV004045548 pathogenic Familial adenomatous polyposis 1 2023-05-05 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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