ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)

dbSNP: rs587781952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130322 SCV000185172 pathogenic Hereditary cancer-predisposing syndrome 2014-02-14 criteria provided, single submitter clinical testing The p.E315* pathogenic mutation (also known as c.943G>T) located in coding exon 6 of the FLCN gene, results from a G to T substitution at nucleotide position 943. This changes the amino acid from a glutamic acid to a stop codon within coding exon 6. This alteration was previously described in an isolated familial pneumothorax cohort (Graham RB et al. Am. J. Respir. Crit. Care Med. 2005; 172:39-44). In addition to the clinical data presented in the literature, sincepremature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269910 SCV001450268 pathogenic not provided 2014-12-18 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001269910 SCV005197948 pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089641 SCV005836601 pathogenic Birt-Hogg-Dube syndrome 2024-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu315*) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Birt-Hogg-Dubé syndrome (PMID: 15805188). ClinVar contains an entry for this variant (Variation ID: 141706). For these reasons, this variant has been classified as Pathogenic.

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