ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1139A>G (p.Asp380Gly)

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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 RCV003306496 SCV004004215 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-16 criteria provided, single submitter clinical testing The p.D380G variant (also known as c.1139A>G), located in coding exon 7 of the FLCN gene, results from an A to G substitution at nucleotide position 1139. The aspartic acid at codon 380 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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