ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8354A>T (p.Asn2785Ile)

dbSNP: rs1408383396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235187 SCV000768031 benign Familial adenomatous polyposis 1 2023-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406419 SCV002675362 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing The p.N2785I variant (also known as c.8354A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 8354. The asparagine at codon 2785 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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