ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.733A>G (p.Thr245Ala) (rs1555609813)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526590 SCV000632886 uncertain significance Multiple fibrofolliculomas 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 245 of the FLCN protein (p.Thr245Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on FLCN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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