ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1433T>G (p.Leu478Ter)

dbSNP: rs863225314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003337245 SCV004044012 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003337245 SCV005834265 pathogenic Familial adenomatous polyposis 1 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu478*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with APC-related conditions (PMID: 23159591). ClinVar contains an entry for this variant (Variation ID: 217928). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000202053 SCV000256921 likely pathogenic not provided no assertion criteria provided research

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