ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8189C>T (p.Ala2730Val)

dbSNP: rs976132108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468466 SCV000552608 uncertain significance Familial adenomatous polyposis 1 2016-10-24 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. This sequence change replaces alanine with valine at codon 2730 of the APC protein (p.Ala2730Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.
Counsyl RCV000468466 SCV000785790 uncertain significance Familial adenomatous polyposis 1 2017-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429544 SCV002680083 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The p.A2730V variant (also known as c.8189C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 8189. The alanine at codon 2730 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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.
Myriad Genetics, Inc. RCV000468466 SCV004018296 uncertain significance Familial adenomatous polyposis 1 2023-02-14 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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