ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2547T>C (p.Asp849=)

dbSNP: rs766086010
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703526 SCV000515416 likely benign not provided 2018-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491860 SCV000579803 likely benign Hereditary cancer-predisposing syndrome 2014-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000491860 SCV000910377 likely benign Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV004563312 SCV001081352 likely benign Familial adenomatous polyposis 1 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157041 SCV001318587 uncertain significance APC-Associated Polyposis Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001703526 SCV004222137 likely benign not provided 2023-03-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912634 SCV004740173 likely benign APC-related disorder 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003996005 SCV004839695 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004563312 SCV004931014 benign Familial adenomatous polyposis 1 2024-03-14 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
True Health Diagnostics RCV000491860 SCV000787832 likely benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing

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