ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5873A>C (p.Asn1958Thr) (rs1060503306)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472525 SCV000552597 uncertain significance Familial adenomatous polyposis 1 2017-10-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 1958 of the APC protein (p.Asn1958Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. 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: 411440). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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