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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