ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1285C>T (p.Pro429Ser)

dbSNP: rs1580531566
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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 RCV001010758 SCV001170998 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-01 criteria provided, single submitter clinical testing The p.P429S variant (also known as c.1285C>T), located in coding exon 9 of the APC gene, results from a C to T substitution at nucleotide position 1285. The proline at codon 429 is replaced by serine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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