ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.418C>A (p.Pro140Thr)

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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 RCV004524829 SCV005030728 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-04 criteria provided, single submitter clinical testing The p.P140T variant (also known as c.418C>A), located in coding exon 3 of the FLCN gene, results from a C to A substitution at nucleotide position 418. The proline at codon 140 is replaced by threonine, an amino acid with highly similar 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 alteration remains unclear.

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