ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.70G>T (p.Val24Leu)

dbSNP: rs775626774
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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 RCV001040382 SCV001203953 uncertain significance Birt-Hogg-Dube syndrome 2024-11-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 24 of the FLCN protein (p.Val24Leu). This variant is present in population databases (rs775626774, gnomAD 0.0009%). 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: 838769). 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 RCV002363572 SCV002663118 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-07 criteria provided, single submitter clinical testing The p.V24L variant (also known as c.70G>T), located in coding exon 1 of the FLCN gene, results from a G to T substitution at nucleotide position 70. The valine at codon 24 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001040382 SCV004199779 uncertain significance Birt-Hogg-Dube syndrome 2023-10-20 criteria provided, single submitter clinical testing

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