ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4525_4526del (p.Leu1509fs)

dbSNP: rs2149916736
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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 RCV001804650 SCV002053468 likely pathogenic Hereditary cancer-predisposing syndrome 2022-01-01 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 16 of the APC gene, creating a frameshift and premature translation stop signal in the last coding exon. This mutant transcript is predicted to escape nonsense-mediated decay and be expressed as a truncated protein. Although functional studies have not been reported, this variant is expected to disrupt multiple protein domains (PMID: 9554852, 11035805, 11257105). In addition, truncating variants occurring downstream of this variant are known to be disease-causing (ClinVar: APC). To our knowledge, 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). Loss of APC function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.
Myriad Genetics, Inc. RCV004564721 SCV004043351 pathogenic Familial adenomatous polyposis 1 2023-05-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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