ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.802C>G (p.Arg268Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004623656 SCV005115513 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-04 criteria provided, single submitter clinical testing The p.R268G variant (also known as c.802C>G), located in coding exon 5 of the FLCN gene, results from a C to G substitution at nucleotide position 802. The arginine at codon 268 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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