ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1241G>A (p.Arg414Gln) (rs1363880753)

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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 RCV001010524 SCV001170740 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-04 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001059187 SCV001223801 uncertain significance Multiple fibrofolliculomas 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 414 of the FLCN protein (p.Arg414Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLCN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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