ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1594A>C (p.Thr532Pro)

gnomAD frequency: 0.00001  dbSNP: rs753023144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012340 SCV001172774 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-13 criteria provided, single submitter clinical testing The p.T532P variant (also known as c.1594A>C), located in coding exon 11 of the FLCN gene, results from an A to C substitution at nucleotide position 1594. The threonine at codon 532 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001860702 SCV002186749 uncertain significance Birt-Hogg-Dube syndrome 2023-01-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is present in population databases (rs753023144, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 532 of the FLCN protein (p.Thr532Pro). ClinVar contains an entry for this variant (Variation ID: 819626). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLCN protein function.

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