ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6741T>C (p.Ser2247=) (rs878853464)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231972 SCV000282802 likely benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573483 SCV000667584 likely benign Hereditary cancer-predisposing syndrome 2016-06-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Color RCV000573483 SCV000681823 likely benign Hereditary cancer-predisposing syndrome 2016-11-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151802 SCV001312972 uncertain significance APC-Associated Polyposis Disorders 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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