ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3727C>T (p.Pro1243Ser)

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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 RCV002349144 SCV002619571 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-06 criteria provided, single submitter clinical testing The p.P1243S variant (also known as c.3727C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 3727. The proline at codon 1243 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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 alteration remains unclear.
Baylor Genetics RCV004572260 SCV005056260 uncertain significance Familial adenomatous polyposis 1 2024-03-07 criteria provided, single submitter clinical testing

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