ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.652C>T (p.Arg218Cys)

dbSNP: rs1555609896
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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 RCV000537821 SCV000632884 uncertain significance Birt-Hogg-Dube syndrome 2024-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 218 of the FLCN protein (p.Arg218Cys). 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: 460626). 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 not expected to disrupt FLCN protein function with a negative 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 RCV002367810 SCV002660560 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-01 criteria provided, single submitter clinical testing The p.R218C variant (also known as c.652C>T), located in coding exon 4 of the FLCN gene, results from a C to T substitution at nucleotide position 652. The arginine at codon 218 is replaced by cysteine, an amino acid with highly dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV005010497 SCV005643836 uncertain significance Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 2024-01-02 criteria provided, single submitter clinical testing

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