ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1396G>A (p.Val466Met)

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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 RCV002629062 SCV003517012 uncertain significance Birt-Hogg-Dube syndrome 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 466 of the FLCN protein (p.Val466Met). 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: 2198015). 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 RCV004949018 SCV005581743 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-15 criteria provided, single submitter clinical testing The p.V466M variant (also known as c.1396G>A), located in coding exon 9 of the FLCN gene, results from a G to A substitution at nucleotide position 1396. The valine at codon 466 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011076 SCV005643800 uncertain significance Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1 2024-05-25 criteria provided, single submitter clinical testing

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