ClinVar Miner

Submissions for variant NM_000038.6(APC):c.715G>C (p.Ala239Pro) (rs777760565)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204305 SCV000260792 uncertain significance Familial adenomatous polyposis 1 2016-12-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 239 of the APC protein (p.Ala239Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs777760565, ExAC 0.01%) but has not been reported in the literature in individuals with a APC-related disease. ClinVar contains an entry for this variant (Variation ID: 220329). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000564542 SCV000667445 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000204305 SCV000785054 uncertain significance Familial adenomatous polyposis 1 2017-03-28 criteria provided, single submitter clinical testing

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