ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1655C>G (p.Ser552Cys)

gnomAD frequency: 0.00001  dbSNP: rs1561557447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564281 SCV000816435 uncertain significance Familial adenomatous polyposis 1 2019-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with APC-related disease. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 552 of the APC protein (p.Ser552Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.
All of Us Research Program, National Institutes of Health RCV004004287 SCV004827721 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-05-16 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 552 of the APC protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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