ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5779C>T (p.Leu1927Phe)

dbSNP: rs730881253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569479 SCV000676375 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-16 criteria provided, single submitter clinical testing The p.L1927F variant (also known as c.5779C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 5779. The leucine at codon 1927 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000569479 SCV000913094 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV001039244 SCV001202764 uncertain significance Familial adenomatous polyposis 1 2022-06-09 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 C0"). ClinVar contains an entry for this variant (Variation ID: 487057). 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 leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1927 of the APC protein (p.Leu1927Phe).

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