ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.31T>G (p.Cys11Gly)

dbSNP: rs879255659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817471 SCV000958034 uncertain significance Birt-Hogg-Dube syndrome 2018-11-15 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FLCN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 11 of the FLCN protein (p.Cys11Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine.
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine RCV000817471 SCV004032381 pathogenic Birt-Hogg-Dube syndrome 2023-07-01 no assertion criteria provided clinical testing

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