ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2840_2841del (p.Cys947fs)

dbSNP: rs1554084531
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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 RCV000773636 SCV000907330 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 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. This variant is expected to result in an absent or non-functional protein product. 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 Pathogenic.
Yale Center for Mendelian Genomics, Yale University RCV000662305 SCV000784636 pathogenic Familial adenomatous polyposis 1 2015-11-27 no assertion criteria provided literature only

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