ClinVar Miner

Submissions for variant NM_000038.5(APC):c.1957A>G (p.Arg653Gly) (rs1114167580)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491162 SCV000579873 pathogenic Hereditary cancer-predisposing syndrome 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV000693642 SCV000821518 likely pathogenic Familial adenomatous polyposis 1 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 653 of the APC protein (p.Arg653Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with familial adenomatous polyposis (PMID: 15459959, 19444466, 26446593, 20223039). ClinVar contains an entry for this variant (Variation ID: 428139). Experimental studies have shown that this missense change located at the second nucleotide from the last nucleotide of exon 15 results in skipping of exon 15 (also known as exon 14 in the literature) (PMID: 15459959, 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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