ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1455G>A (p.Met485Ile) (rs747739964)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532203 SCV000647178 uncertain significance Familial adenomatous polyposis 1 2017-11-30 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 485 of the APC protein (p.Met485Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs747739964, ExAC 0.01%). This variant has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000775131 SCV000909247 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775131 SCV001172015 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-17 criteria provided, single submitter clinical testing Insufficient evidence

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