ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7864C>G (p.Pro2622Ala)

dbSNP: rs1060503330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003470487 SCV000552667 uncertain significance Familial adenomatous polyposis 1 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2622 of the APC protein (p.Pro2622Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 411484). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function with a negative predictive value of 95%. 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 RCV002411509 SCV002678128 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-31 criteria provided, single submitter clinical testing The p.P2622A variant (also known as c.7864C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 7864. The proline at codon 2622 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not 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.
Baylor Genetics RCV003470487 SCV004209056 uncertain significance Familial adenomatous polyposis 1 2023-08-27 criteria provided, single submitter clinical testing

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