ClinVar Miner

Submissions for variant NM_000038.6(APC):c.220+6T>C

dbSNP: rs1756339861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770970 SCV001540992 uncertain significance Familial adenomatous polyposis 1 2023-08-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1042757). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. It affects a nucleotide within the consensus splice site.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476594 SCV002774408 uncertain significance not provided 2021-06-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005207 SCV004837231 likely benign Classic or attenuated familial adenomatous polyposis 2024-02-05 criteria provided, single submitter clinical testing

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