ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1108A>C (p.Met370Leu)

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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 RCV002428629 SCV002743369 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-05 criteria provided, single submitter clinical testing The p.M370L variant (also known as c.1108A>C), located in coding exon 7 of the FLCN gene, results from an A to C substitution at nucleotide position 1108. The methionine at codon 370 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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