ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2975G>C (p.Ser992Thr)

dbSNP: rs864622328
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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 RCV000204716 SCV000260169 uncertain significance Familial adenomatous polyposis 1 2015-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 992 of the APC protein (p.Ser992Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases and has not been reported in the literature. 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 is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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