ClinVar Miner

Submissions for variant NM_000038.5(APC):c.757G>A (p.Gly253Ser) (rs772806807)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677749 SCV000803905 uncertain significance Colon cancer 2017-06-14 no assertion criteria provided clinical testing
Ambry Genetics RCV000562662 SCV000667227 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000562662 SCV000902854 benign Hereditary cancer-predisposing syndrome 2016-06-15 criteria provided, single submitter clinical testing
Counsyl RCV000229496 SCV000785247 uncertain significance Familial adenomatous polyposis 1 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV000229496 SCV000282827 uncertain significance Familial adenomatous polyposis 1 2018-06-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 253 of the APC protein (p.Gly253Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs772806807, ExAC 0.01%) but has not been reported in the literature in individuals with an APC-related disease. ClinVar contains an entry for this variant (Variation ID: 236647). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The serine 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 that is not predicted to affect 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.
Mendelics RCV000229496 SCV000838068 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing

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