ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.202A>G (p.Ser68Gly) (rs587778365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635559 SCV000756976 uncertain significance Multiple fibrofolliculomas 2018-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 68 of the FLCN protein (p.Ser68Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs587778365, ExAC 0.006%). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 134422). 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.
ITMI RCV000121098 SCV000085266 not provided not specified 2013-09-19 no assertion provided reference population

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