ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.95G>A (p.Gly32Glu) (rs587778366)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019544 SCV001180916 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-25 criteria provided, single submitter clinical testing The p.G32E variant (also known as c.95G>A), located in coding exon 1 of the FLCN gene, results from a G to A substitution at nucleotide position 95. The glycine at codon 32 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001062369 SCV001227164 uncertain significance Multiple fibrofolliculomas 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 32 of the FLCN protein (p.Gly32Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs587778366, ExAC 0.009%). This variant has not been reported in the literature in individuals with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 134424). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). 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 RCV000121100 SCV000085268 not provided not specified 2013-09-19 no assertion provided reference population

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