ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1505G>A (p.Gly502Glu)

dbSNP: rs1554081732
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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 RCV000571423 SCV000676358 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-30 criteria provided, single submitter clinical testing The p.G502E variant (also known as c.1505G>A), located in coding exon 11 of the APC gene, results from a G to A substitution at nucleotide position 1505. The glycine at codon 502 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly 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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