ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3980C>G (p.Ser1327Ter)

dbSNP: rs1554085429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561581 SCV000647485 pathogenic Familial adenomatous polyposis 1 2017-02-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 1327 (p.Ser1327*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1,517 amino acids (>50%) of the APC protein. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). In addition, multiple truncating variants downstream of this variant have been reported as pathogenic in individuals with FAP (PMID: 20685668, 20223039).
Myriad Genetics, Inc. RCV004561581 SCV004043735 pathogenic Familial adenomatous polyposis 1 2023-05-09 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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