ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)

dbSNP: rs1567822604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704964 SCV000833939 uncertain significance Birt-Hogg-Dube syndrome 2023-05-31 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FLCN protein function. 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. ClinVar contains an entry for this variant (Variation ID: 581206). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 127 of the FLCN protein (p.Arg127Gln).
GeneDx RCV001843545 SCV002102662 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002360819 SCV002625471 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-19 criteria provided, single submitter clinical testing The p.R127Q variant (also known as c.380G>A), located in coding exon 2 of the FLCN gene, results from a G to A substitution at nucleotide position 380. The arginine at codon 127 is replaced by glutamine, 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.
Fulgent Genetics, Fulgent Genetics RCV002507236 SCV002815097 uncertain significance Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-05-19 criteria provided, single submitter clinical testing

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