ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) (rs749142480)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471930 SCV000552568 uncertain significance Familial adenomatous polyposis 1 2018-11-25 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1467 of the APC protein (p.Pro1467Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs749142480, ExAC 0.01%). This variant has been reported in individuals affected with colorectal adenomas (PMID: 21859464, 18199528). ClinVar contains an entry for this variant (Variation ID: 411419). 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, 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.
Ambry Genetics RCV000565410 SCV000667285 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Counsyl RCV000471930 SCV000785085 uncertain significance Familial adenomatous polyposis 1 2017-04-10 criteria provided, single submitter clinical testing
Color RCV000565410 SCV000903489 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-20 criteria provided, single submitter clinical testing

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