ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7942G>A (p.Ala2648Thr)

dbSNP: rs1195417407
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003534743 SCV000836437 likely benign Familial adenomatous polyposis 1 2023-04-21 criteria provided, single submitter clinical testing
Mendelics RCV000707345 SCV001136954 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255516 SCV002528895 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-09 criteria provided, single submitter curation
Ambry Genetics RCV002255516 SCV002679574 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The p.A2648T variant (also known as c.7942G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 7942. The alanine at codon 2648 is replaced by threonine, 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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