ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7750G>C (p.Ala2584Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004659736 SCV005151821 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-13 criteria provided, single submitter clinical testing The p.A2584P variant (also known as c.7750G>C), located in coding exon 15 of the APC gene, results from a G to C substitution at nucleotide position 7750. The alanine at codon 2584 is replaced by proline, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this variant remains unclear.

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