ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1204C>A (p.Arg402Ser)

dbSNP: rs876660612
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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 RCV001010316 SCV001170493 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-15 criteria provided, single submitter clinical testing The p.R402S variant (also known as c.1204C>A), located in coding exon 9 of the APC gene, results from a C to A substitution at nucleotide position 1204. The arginine at codon 402 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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