ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5893C>G (p.His1965Asp)

dbSNP: rs1385926024
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003653368 SCV000947839 uncertain significance Familial adenomatous polyposis 1 2022-06-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 1965 of the APC protein (p.His1965Asp). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 652246).

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