ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2069G>A (p.Arg690Lys)

dbSNP: rs878853423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192193 SCV001360214 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-21 criteria provided, single submitter clinical testing
Invitae RCV003535603 SCV002122171 uncertain significance Familial adenomatous polyposis 1 2022-10-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 236570). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. 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 replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 690 of the APC protein (p.Arg690Lys).
Ambry Genetics RCV001192193 SCV002727682 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-23 criteria provided, single submitter clinical testing The p.R690K variant (also known as c.2069G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 2069. The arginine at codon 690 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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