ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4332A>G (p.Gln1444=) (rs748342378)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206380 SCV000260788 uncertain significance Familial adenomatous polyposis 1 2015-09-20 criteria provided, single submitter clinical testing This sequence change affects codon 1444 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 present in population databases (ExAC, <0.01%), but has not been reported in the literature. Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this sequence change may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000566463 SCV000676317 likely benign Hereditary cancer-predisposing syndrome 2016-11-11 criteria provided, single submitter clinical testing

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