ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3218C>T (p.Thr1073Ile) (rs773354366)

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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 RCV000572159 SCV000672510 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 RCV000646327 SCV000768095 uncertain significance Familial adenomatous polyposis 1 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1073 of the APC protein (p.Thr1073Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs773354366, 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: 485097). 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 and their clinical significance is uncertain. 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 RCV000584548 SCV000691731 uncertain significance not specified no assertion criteria provided clinical testing

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