ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2458A>T (p.Thr820Ser)

dbSNP: rs2149870006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004571501 SCV002147192 uncertain significance Familial adenomatous polyposis 1 2021-09-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 820 of the APC protein (p.Thr820Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine.

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