ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.544C>T (p.Leu182Phe)

gnomAD frequency: 0.00001  dbSNP: rs749368513
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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 RCV001995171 SCV002251783 uncertain significance Birt-Hogg-Dube syndrome 2024-11-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 182 of the FLCN protein (p.Leu182Phe). This variant is present in population databases (rs749368513, gnomAD 0.006%). 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: 1470265). 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 RCV002344138 SCV002648121 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing The p.L182F variant (also known as c.544C>T), located in coding exon 3 of the FLCN gene, results from a C to T substitution at nucleotide position 544. The leucine at codon 182 is replaced by phenylalanine, an amino acid with highly 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 RCV004571856 SCV005058706 uncertain significance Birt-Hogg-Dube syndrome 1 2023-11-26 criteria provided, single submitter clinical testing

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