ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4893T>C (p.Ser1631=) (rs35634377)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119110 SCV000153822 benign Familial adenomatous polyposis 1 2018-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000211917 SCV000167010 benign not specified 2014-04-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000123668 SCV000213278 likely benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388181 SCV000452016 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211917 SCV000600106 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Color RCV000123668 SCV000681693 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586060 SCV000694060 benign not provided 2016-01-25 criteria provided, single submitter clinical testing Variant summary: Variant affects a non-conserved nucleotide and results in a synonymous mutation. Mutation taster predicts disease causing impact while 5/5 in silico tools via Alamut predict no significant effect on normal splicing. It was predominantly observed in the African subcohort of the ExAC project at an allele frequency of 0.538% which exeeds the maximal expected allele frequency of a disease causing APC allele 0.006% indicating a neutral impact. Additionally, clinical diagnostic centers classify variant as Likely Bening/Benign via ClinVar (without evidence to independently evaluate). Considering all evidence, the variant was classified as Benign.
PreventionGenetics,PreventionGenetics RCV000211917 SCV000805415 benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586060 SCV000887525 benign not provided 2017-09-27 criteria provided, single submitter clinical testing

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