ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) (rs201185479)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130302 SCV000185151 likely benign Hereditary cancer-predisposing syndrome 2018-06-25 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign)
Invitae RCV000198440 SCV000254009 likely benign Familial adenomatous polyposis 1 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000236652 SCV000293890 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing Observed in individuals with colorectal cancer (Yurgelun 2017); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29058119, 28135145)
Color Health, Inc RCV000130302 SCV000681619 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-17 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 1209 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with colorectal cancer (PMID: 28135145). This variant has been identified in 12/281956 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Counsyl RCV000198440 SCV000785837 uncertain significance Familial adenomatous polyposis 1 2017-12-18 criteria provided, single submitter clinical testing
Mendelics RCV000198440 SCV000838109 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154640 SCV001316018 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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