ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8191C>T (p.Pro2731Ser)

dbSNP: rs754566648
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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 RCV001027261 SCV001189792 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-16 criteria provided, single submitter clinical testing The p.P2731S variant (also known as c.8191C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 8191. The proline at codon 2731 is replaced by serine, 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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