ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5990G>A (p.Gly1997Glu)

dbSNP: rs771811726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569179 SCV000667692 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing The p.G1997E variant (also known as c.5990G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 5990. The glycine at codon 1997 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767154 SCV002269979 uncertain significance Familial adenomatous polyposis 1 2020-11-12 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1997 of the APC protein (p.Gly1997Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs771811726, ExAC 0.006%). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 482438). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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