ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8395T>A (p.Ser2799Thr)

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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 RCV004572653 SCV003341852 uncertain significance Familial adenomatous polyposis 1 2022-04-08 criteria provided, single submitter clinical testing 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 tolerated. 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 serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 2799 of the APC protein (p.Ser2799Thr). 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 RCV004946161 SCV005462164 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-07 criteria provided, single submitter clinical testing The p.S2799T variant (also known as c.8395T>A), located in coding exon 15 of the APC gene, results from a T to A substitution at nucleotide position 8395. The serine at codon 2799 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this variant remains unclear.

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