ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1886T>A (p.Leu629Ter)

dbSNP: rs1019221239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000708956 SCV000838083 pathogenic Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000708956 SCV004043285 pathogenic Familial adenomatous polyposis 1 2023-05-03 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 RCV000708956 SCV004293620 pathogenic Familial adenomatous polyposis 1 2024-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu629*) 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 familial adenomatous polyposis (PMID: 9101302). ClinVar contains an entry for this variant (Variation ID: 584664). 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.

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