ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8461G>A (p.Asp2821Asn)

dbSNP: rs1554089164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002442402 SCV002677480 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-30 criteria provided, single submitter clinical testing The p.D2821N variant (also known as c.8461G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 8461. The aspartic acid at codon 2821 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
3DMed Clinical Laboratory Inc RCV000677770 SCV000803926 uncertain significance Intrahepatic cholangiocarcinoma 2017-11-22 no assertion criteria provided clinical testing

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