ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2494C>T (p.Pro832Ser)

dbSNP: rs1554084213
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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 RCV000580256 SCV000681527 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562517 SCV001210162 uncertain significance Familial adenomatous polyposis 1 2019-11-19 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 489424). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 832 of the APC protein (p.Pro832Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
Ambry Genetics RCV000580256 SCV002741051 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-13 criteria provided, single submitter clinical testing The p.P832S variant (also known as c.2494C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2494. The proline at codon 832 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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