ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7228G>A (p.Ala2410Thr)

dbSNP: rs902036382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564715 SCV000672563 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing The p.A2410T variant (also known as c.7228G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 7228. The alanine at codon 2410 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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 RCV003767211 SCV001491974 uncertain significance Familial adenomatous polyposis 1 2022-03-05 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 485124). 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 alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2410 of the APC protein (p.Ala2410Thr).

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