ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1153del (p.Gln385fs)

dbSNP: rs1555607960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574913 SCV000673465 pathogenic Hereditary cancer-predisposing syndrome 2016-12-08 criteria provided, single submitter clinical testing The c.1153delC pathogenic mutation, located in coding exon 7 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1153, causing a translational frameshift with a predicted alternate stop codon (p.Q385Sfs*83). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091424 SCV005741197 pathogenic Birt-Hogg-Dube syndrome 2024-03-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln385Serfs*83) 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 renal cancer (PMID: 32782288). ClinVar contains an entry for this variant (Variation ID: 485603). For these reasons, this variant has been classified as Pathogenic.

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