ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1358G>A (p.Gly453Glu)

gnomAD frequency: 0.00001  dbSNP: rs1555607217
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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 RCV000562308 SCV000673488 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-13 criteria provided, single submitter clinical testing The p.G453E variant (also known as c.1358G>A), located in coding exon 9 of the FLCN gene, results from a G to A substitution at nucleotide position 1358. The glycine at codon 453 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, 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.
Invitae RCV001853770 SCV002206505 uncertain significance Birt-Hogg-Dube syndrome 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 453 of the FLCN protein (p.Gly453Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 485624). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV003229844 SCV003927482 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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