ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1341T>A (p.Cys447Ter)

dbSNP: rs1561545947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761223 SCV000891178 likely pathogenic Familial multiple polyposis syndrome 2016-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386324 SCV002693666 pathogenic Hereditary cancer-predisposing syndrome 2021-10-14 criteria provided, single submitter clinical testing The p.C447* pathogenic mutation (also known as c.1341T>A), located in coding exon 10 of the APC gene, results from a T to A substitution at nucleotide position 1341. This changes the amino acid from a cysteine to a stop codon within coding exon 10. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with Familial Adenomatous Polyposis-related disease (Ambry internal data). 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. RCV003336172 SCV004043712 pathogenic Familial adenomatous polyposis 1 2023-05-01 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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