ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7770A>C (p.Lys2590Asn)

dbSNP: rs1766563090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191479 SCV001359301 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces lysine with asparagine at codon 2590 of the APC protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001191479 SCV002674916 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-06 criteria provided, single submitter clinical testing The p.K2590N variant (also known as c.7770A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 7770. The lysine at codon 2590 is replaced by asparagine, an amino acid with similar properties. This amino acid position is 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.

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