ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5026_5028del (p.Arg1676del) (rs768369050)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459910 SCV000552561 uncertain significance Familial adenomatous polyposis 1 2018-12-14 criteria provided, single submitter clinical testing This variant, c.5026_5028delAGA, results in the deletion of 1 amino acid of the APC protein (p.Arg1676del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs768369050, ExAC 0.01%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 411414). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000582605 SCV000686996 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780835 SCV000918435 uncertain significance not specified 2018-03-30 criteria provided, single submitter clinical testing Variant summary: APC c.5026_5028delAGA (p.Arg1676del) results in an in-frame deletion that is predicted to remove Arg1676 from the encoded protein. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5026_5028delAGA in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
3DMed Clinical Laboratory Inc RCV000677746 SCV000803902 uncertain significance Colon cancer 2017-04-24 no assertion criteria provided clinical testing

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