ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2549G>A (p.Arg850Lys)

dbSNP: rs1765208653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003649365 SCV001228142 uncertain significance Familial adenomatous polyposis 1 2023-06-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 857594). 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 850 of the APC protein (p.Arg850Lys).
Ambry Genetics RCV002429702 SCV002742928 uncertain significance Hereditary cancer-predisposing syndrome 2020-07-22 criteria provided, single submitter clinical testing The p.R850K variant (also known as c.2549G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 2549. The arginine at codon 850 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is well 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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