ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1310C>G (p.Pro437Arg) (rs762936223)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806103 SCV000946084 uncertain significance Familial adenomatous polyposis 1 2018-10-26 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 437 of the APC protein (p.Pro437Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs762936223, ExAC 0.002%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 217922). 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: "Benign"; 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 RCV000202227 SCV000256914 likely benign not specified no assertion criteria provided research

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