ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5897A>T (p.Asn1966Ile)

dbSNP: rs1322614389
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561990 SCV001395084 uncertain significance Familial adenomatous polyposis 1 2019-06-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. This sequence change replaces asparagine with isoleucine at codon 1966 of the APC protein (p.Asn1966Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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