ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2527A>G (p.Ser843Gly)

gnomAD frequency: 0.00006  dbSNP: rs536223189
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491956 SCV000579866 benign Hereditary cancer-predisposing syndrome 2023-05-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000491956 SCV000681529 likely benign Hereditary cancer-predisposing syndrome 2023-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523433 SCV000768341 likely benign Familial adenomatous polyposis 1 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001775829 SCV002013852 uncertain significance not provided 2020-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465690 SCV002760348 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002523433 SCV003915758 uncertain significance Familial adenomatous polyposis 1 2023-04-07 criteria provided, single submitter clinical testing A heterozygous missense substitution (p.Ser843Gly) lies in exon 16 of the APC gene and alters a highly conserved residue in the protein. In silico prediction of the variant are damaging by LRT, Mutation Taster and SIFT. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Baylor Genetics RCV002523433 SCV004207317 uncertain significance Familial adenomatous polyposis 1 2022-12-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003444 SCV004839690 likely benign Classic or attenuated familial adenomatous polyposis 2023-11-20 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677765 SCV000803921 uncertain significance Hepatocellular carcinoma 2017-09-23 no assertion criteria provided clinical testing

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