ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1189G>A (p.Asp397Asn)

dbSNP: rs1580530341
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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 RCV001010232 SCV001170395 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-01 criteria provided, single submitter clinical testing The p.D397N variant (also known as c.1189G>A), located in coding exon 9 of the APC gene, results from a G to A substitution at nucleotide position 1189. The aspartic acid at codon 397 is replaced by asparagine, 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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