ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3203C>G (p.Ser1068Ter)

dbSNP: rs1554084848
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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 RCV000583699 SCV000686925 pathogenic Hereditary cancer-predisposing syndrome 2020-04-20 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 16 of the APC gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in a family affected with familial adenomatous polyposis (PMID: 12010888). 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.
Myriad Genetics, Inc. RCV004562576 SCV004045612 pathogenic Familial adenomatous polyposis 1 2023-05-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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