ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7236A>T (p.Lys2412Asn)

dbSNP: rs1554088153
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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 RCV000572004 SCV000667724 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing The p.K2412N variant (also known as c.7236A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 7236. The lysine at codon 2412 is replaced by asparagine, 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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