ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8395T>C (p.Ser2799Pro)

dbSNP: rs906191341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561033 SCV000672551 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-14 criteria provided, single submitter clinical testing The p.S2799P variant (also known as c.8395T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide position 8395. The serine at codon 2799 is replaced by proline, an amino acid with 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.
Invitae RCV003537184 SCV000820724 likely benign Familial adenomatous polyposis 1 2023-12-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000561033 SCV001734796 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-09 criteria provided, single submitter clinical testing This missense variant replaces serine with proline at codon 2799 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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