ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7823C>G (p.Ala2608Gly)

dbSNP: rs1554088688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003538486 SCV000768203 uncertain significance Familial adenomatous polyposis 1 2017-12-28 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 2608 of the APC protein (p.Ala2608Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine.
GeneDx RCV001775938 SCV002012657 uncertain significance not provided 2019-06-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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