ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1069G>C (p.Gly357Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914817 SCV003267064 uncertain significance Birt-Hogg-Dube syndrome 2022-07-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 357 of the FLCN protein (p.Gly357Arg).
Ambry Genetics RCV004948840 SCV005581748 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-04 criteria provided, single submitter clinical testing The p.G357R variant (also known as c.1069G>C), located in coding exon 7 of the FLCN gene, results from a G to C substitution at nucleotide position 1069. The glycine at codon 357 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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