ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.212C>A (p.Ser71Tyr)

dbSNP: rs1555611399
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994248 SCV002270370 uncertain significance Birt-Hogg-Dube syndrome 2021-09-21 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 71 of the FLCN protein (p.Ser71Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. 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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