ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.811G>A (p.Glu271Lys)

dbSNP: rs2047091792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217150 SCV001388983 uncertain significance Birt-Hogg-Dube syndrome 2024-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 271 of the FLCN protein (p.Glu271Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with BHD syndrome (PMID: 33057194). ClinVar contains an entry for this variant (Variation ID: 946308). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt FLCN protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV002418747 SCV002678260 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-14 criteria provided, single submitter clinical testing The p.E271K variant (also known as c.811G>A), located in coding exon 5 of the FLCN gene, results from a G to A substitution at nucleotide position 811. The glutamic acid at codon 271 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001217150 SCV004199792 uncertain significance Birt-Hogg-Dube syndrome 2023-09-21 criteria provided, single submitter clinical testing

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