ClinVar Miner

Submissions for variant NM_000038.6(APC):c.422+1G>C

dbSNP: rs1756480727
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771225 SCV001575480 likely pathogenic Familial adenomatous polyposis 1 2020-07-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). Disruption of this splice site has been observed in individual(s) with clinical features of familial adenomatous polyposis (PMID: 23159591, 8381580). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 4 of the APC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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