ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4891A>T (p.Ser1631Cys) (rs876660680)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214080 SCV000278304 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-23 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence
Invitae RCV000560797 SCV000647544 uncertain significance Familial adenomatous polyposis 1 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1631 of the APC protein (p.Ser1631Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with multiple adenomas or familial adenomatous polyposis (PMID: 27705013). ClinVar contains an entry for this variant (Variation ID: 233845). 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"). 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.
Color RCV000214080 SCV000681692 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-24 criteria provided, single submitter clinical testing

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