ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2186del (p.Leu729fs)

dbSNP: rs2149862736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508526 SCV001714743 likely pathogenic not provided 2020-08-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2
Ambry Genetics RCV003161038 SCV003866196 pathogenic Hereditary cancer-predisposing syndrome 2022-12-09 criteria provided, single submitter clinical testing The c.2186delT pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 2186, causing a translational frameshift with a predicted alternate stop codon (p.L729Pfs*32). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with APC-related disease (Ambry internal data). This alteration occurs in the last exon of the APC gene and is not expected to trigger nonsense-mediated mRNA decay. However, the impacted region is considered as critical for protein function (Ambry internal data). In addition, this variant disrupts the protein upstream of other pathogenic premature truncating variants. As such, this alteration is interpreted as a disease-causing mutation.

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