ClinVar Miner

Submissions for variant NM_000038.6(APC):c.818C>G (p.Thr273Ser)

dbSNP: rs1580455456
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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 RCV001027256 SCV001189786 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-12 criteria provided, single submitter clinical testing The p.T273S variant (also known as c.818C>G), located in coding exon 7 of the APC gene, results from a C to G substitution at nucleotide position 818. The threonine at codon 273 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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 RCV003473608 SCV004201513 uncertain significance Familial adenomatous polyposis 1 2023-07-13 criteria provided, single submitter clinical testing

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