ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1582C>T (p.Pro528Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003015851 SCV003310697 uncertain significance Birt-Hogg-Dube syndrome 2022-02-02 criteria provided, single submitter clinical testing 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. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 528 of the FLCN protein (p.Pro528Ser). This variant is not present in population databases (gnomAD no frequency). 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.
Ambry Genetics RCV003308420 SCV004004241 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-27 criteria provided, single submitter clinical testing The p.P528S variant (also known as c.1582C>T), located in coding exon 11 of the FLCN gene, results from a C to T substitution at nucleotide position 1582. The proline at codon 528 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.

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