ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6553A>G (p.Ser2185Gly) (rs1060503292)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466221 SCV000552556 uncertain significance Familial adenomatous polyposis 1 2018-04-26 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 2185 of the APC protein (p.Ser2185Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 411410). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
3DMed Clinical Laboratory Inc RCV000677772 SCV000803928 uncertain significance Malignant tumor of ascending colon 2017-12-14 no assertion criteria provided clinical testing

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