ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4928G>C (p.Cys1643Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004572507 SCV003293228 uncertain significance Familial adenomatous polyposis 1 2022-01-11 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1643 of the APC protein (p.Cys1643Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004661527 SCV005149441 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-28 criteria provided, single submitter clinical testing The p.C1643S variant (also known as c.4928G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 4928. The cysteine at codon 1643 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this alteration remains unclear.

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