ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.342C>A (p.His114Gln) (rs1448942524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694404 SCV000822848 uncertain significance Multiple fibrofolliculomas 2018-02-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 114 of the FLCN protein (p.His114Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine 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 disease. 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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