ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1106T>A (p.Leu369Ter)

dbSNP: rs2149781233
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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 RCV003772517 SCV002118956 pathogenic Familial adenomatous polyposis 1 2023-04-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1360942). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu369*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).
Myriad Genetics, Inc. RCV003772517 SCV004044809 pathogenic Familial adenomatous polyposis 1 2023-04-28 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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