ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2966A>G (p.Asp989Gly) (rs770976457)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468631 SCV000552522 uncertain significance Familial adenomatous polyposis 1 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 989 of the APC protein (p.Asp989Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs770976457, ExAC 0.01%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 411386). 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 disruptive, 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.
Ambry Genetics RCV000561099 SCV000667410 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000561099 SCV000681567 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758725 SCV000887514 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing

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