ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7264A>T (p.Thr2422Ser) (rs730881260)

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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 RCV000575939 SCV000672525 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000646489 SCV000768261 uncertain significance Familial adenomatous polyposis 1 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 2422 of the APC protein (p.Thr2422Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs730881260, ExAC 0.003%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 485104). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000582754 SCV000691764 uncertain significance not specified no assertion criteria provided clinical testing

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