ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3612A>G (p.Gln1204=) (rs864622196)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205764 SCV000259657 uncertain significance Familial adenomatous polyposis 1 2018-03-28 criteria provided, single submitter clinical testing This sequence change affects codon 1204 of the APC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the APC protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. ClinVar contains an entry for this variant (Variation ID: 219657). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000219798 SCV000274178 likely benign Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing
Counsyl RCV000205764 SCV000786536 likely benign Familial adenomatous polyposis 1 2018-05-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779737 SCV000916505 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing

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