ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.8C>T (p.Ala3Val)

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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 RCV004948075 SCV005581726 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-12 criteria provided, single submitter clinical testing The p.A3V variant (also known as c.8C>T), located in coding exon 1 of the FLCN gene, results from a C to T substitution at nucleotide position 8. The alanine at codon 3 is replaced by valine, an amino acid with 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 variant remains unclear.

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