ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7591T>G (p.Ser2531Ala)

dbSNP: rs1060503311
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003766578 SCV000552609 uncertain significance Familial adenomatous polyposis 1 2023-09-04 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change does not substantially affect APC function (PMID: 28663347). 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. ClinVar contains an entry for this variant (Variation ID: 411449). 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 alanine, which is neutral and non-polar, at codon 2531 of the APC protein (p.Ser2531Ala). 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 RCV000567469 SCV000672512 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-07 criteria provided, single submitter clinical testing The p.S2531A variant (also known as c.7591T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 7591. The serine at codon 2531 is replaced by alanine, 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.

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