ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.721C>G (p.Leu241Val)

gnomAD frequency: 0.00001  dbSNP: rs1337020636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026169 SCV001188494 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-02 criteria provided, single submitter clinical testing The p.L241V variant (also known as c.721C>G), located in coding exon 4 of the FLCN gene, results from a C to G substitution at nucleotide position 721. The leucine at codon 241 is replaced by valine, 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.
Invitae RCV002552408 SCV003310805 uncertain significance Birt-Hogg-Dube syndrome 2023-04-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 826914). 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. 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 not expected to disrupt FLCN protein function. 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 leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 241 of the FLCN protein (p.Leu241Val).

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