ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1016G>T (p.Ser339Ile)

dbSNP: rs1554079972
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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 RCV002338210 SCV002642349 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-19 criteria provided, single submitter clinical testing The p.S339I variant (also known as c.1016G>T), located in coding exon 9 of the APC gene, results from a G to T substitution at nucleotide position 1016. The serine at codon 339 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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