ClinVar Miner

Submissions for variant NM_000038.6(APC):c.644A>C (p.Gln215Pro)

dbSNP: rs1561486001
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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 RCV002361826 SCV002658732 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter clinical testing The p.Q215P variant (also known as c.644A>C), located in coding exon 5 of the APC gene, results from an A to C substitution at nucleotide position 644. The glutamine at codon 215 is replaced by proline, 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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