ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7173T>G (p.Ile2391Met)

dbSNP: rs1561613381
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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 RCV004525245 SCV005034442 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-12 criteria provided, single submitter clinical testing The p.I2391M variant (also known as c.7173T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 7173. The isoleucine at codon 2391 is replaced by methionine, an amino acid with highly 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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