ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2759A>G (p.Asn920Ser)

dbSNP: rs1765257361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192255 SCV001360282 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-04 criteria provided, single submitter clinical testing
Invitae RCV003770177 SCV002201957 uncertain significance Familial adenomatous polyposis 1 2021-01-24 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 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 928394). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 920 of the APC protein (p.Asn920Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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