ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1424C>A (p.Ala475Glu)

dbSNP: rs2144836805
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368676 SCV001565082 uncertain significance Birt-Hogg-Dube syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 475 of the FLCN protein (p.Ala475Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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. 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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