ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6508C>T (p.Pro2170Ser)

gnomAD frequency: 0.00001  dbSNP: rs1229142303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003470762 SCV000647648 likely benign Familial adenomatous polyposis 1 2023-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358548 SCV002655569 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-09 criteria provided, single submitter clinical testing The p.P2170S variant (also known as c.6508C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 6508. The proline at codon 2170 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.
Baylor Genetics RCV003470762 SCV004204841 uncertain significance Familial adenomatous polyposis 1 2023-06-21 criteria provided, single submitter clinical testing

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