ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)

dbSNP: rs748031634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544099 SCV000632893 uncertain significance Birt-Hogg-Dube syndrome 2022-01-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 278 of the FLCN protein (p.Pro278Arg). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. 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. 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"). ClinVar contains an entry for this variant (Variation ID: 460634).
Ambry Genetics RCV002438333 SCV002677169 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-06 criteria provided, single submitter clinical testing The p.P278R variant (also known as c.833C>G), located in coding exon 5 of the FLCN gene, results from a C to G substitution at nucleotide position 833. The proline at codon 278 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483393 SCV002783368 uncertain significance Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-03-05 criteria provided, single submitter clinical testing

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