ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3192G>T (p.Glu1064Asp)

dbSNP: rs1580632280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284350 SCV001470095 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004943 SCV004832064 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-06-08 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with aspartic acid at codon 1064 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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