ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3029G>A (p.Ser1010Asn) (rs864622584)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204027 SCV000261211 uncertain significance Familial adenomatous polyposis 1 2018-06-14 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1010 of the APC protein (p.Ser1010Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a patient with colorectal adenomas (PMID: 14999774). ClinVar contains an entry for this variant (Variation ID: 220569). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000204027 SCV000838098 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing

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