ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1803G>C (p.Glu601Asp)

gnomAD frequency: 0.00001  dbSNP: rs1447250546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584394 SCV000686857 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-18 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with aspartic acid at codon 601 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/251250 chromosomes 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.
Invitae RCV002232695 SCV001505514 uncertain significance Familial adenomatous polyposis 1 2021-11-08 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 490226). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 601 of the APC protein (p.Glu601Asp).
3DMed Clinical Laboratory Inc RCV000677756 SCV000803912 uncertain significance Colon cancer 2017-07-26 no assertion criteria provided clinical testing

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