ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2200C>T (p.Pro734Ser)

dbSNP: rs1561575432
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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 RCV000771767 SCV000904426 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004561722 SCV001374297 uncertain significance Familial adenomatous polyposis 1 2022-08-16 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 627878). 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 proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 734 of the APC protein (p.Pro734Ser).
Ambry Genetics RCV000771767 SCV004001064 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-28 criteria provided, single submitter clinical testing The p.P734S variant (also known as c.2200C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2200. The proline at codon 734 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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