ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.412G>T (p.Glu138Ter)

dbSNP: rs1597607423
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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 RCV001021922 SCV001183599 pathogenic Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing The p.E138* pathogenic mutation (also known as c.412G>T), located in coding exon 3 of the FLCN gene, results from a G to T substitution at nucleotide position 412. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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