ClinVar Miner

Submissions for variant NM_000038.6(APC):c.18T>G (p.Tyr6Ter)

dbSNP: rs786202301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004565047 SCV004045157 pathogenic Familial adenomatous polyposis 1 2023-04-24 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 RCV004565047 SCV005741612 pathogenic Familial adenomatous polyposis 1 2024-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr6*) 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 variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 2584327). For these reasons, this variant has been classified as Pathogenic.

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