ClinVar Miner

Submissions for variant NM_000038.6(APC):c.75A>G (p.Gln25=) (rs876659361)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222595 SCV000275736 likely benign Hereditary cancer-predisposing syndrome 2015-05-13 criteria provided, single submitter clinical testing
Invitae RCV000233328 SCV000282828 uncertain significance Familial adenomatous polyposis 1 2018-10-10 criteria provided, single submitter clinical testing This sequence change affects codon 25 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: 231784). Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant 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.
GeneDx RCV000433787 SCV000512057 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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