ClinVar Miner

Submissions for variant NM_000038.6(APC):c.423-9A>G (rs1554071494)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551256 SCV000647503 likely pathogenic Familial adenomatous polyposis 1 2018-12-26 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the Leiden Open Variation Database (PMID: 21520333) and in several individuals affected with familial adenomatous polyposis (Invitae). Moreover, it has been observed to segregate with familial adenomatous polyposis in a family (Invitae). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 24599579). 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.

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