ClinVar Miner

Submissions for variant NM_000038.6(APC):c.173A>G (p.Glu58Gly)

dbSNP: rs1581160289
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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 RCV001012936 SCV001173457 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter clinical testing The p.E58G variant (also known as c.173A>G), located in coding exon 2 of the APC gene, results from an A to G substitution at nucleotide position 173. The glutamic acid at codon 58 is replaced by glycine, 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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