ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6886A>T (p.Ser2296Cys)

dbSNP: rs773969436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003535994 SCV000949675 uncertain significance Familial adenomatous polyposis 1 2018-07-24 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 2296 of the APC protein (p.Ser2296Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine.

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