ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)

dbSNP: rs1131690841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492687 SCV000580761 pathogenic Hereditary cancer-predisposing syndrome 2019-12-17 criteria provided, single submitter clinical testing The c.1357_1363delGGGTGTG pathogenic mutation, located in coding exon 9 of the FLCN gene, results from a deletion of 7 nucleotides at nucleotide positions 1357 to 1363, causing a translational frameshift with a predicted alternate stop codon (p.G453Rfs*13). 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 RCV001044760 SCV001208575 pathogenic Birt-Hogg-Dube syndrome 2023-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly453Argfs*13) 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 variant has not been reported in the literature in individuals affected with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 428658). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002481559 SCV002787532 likely pathogenic Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-10-13 criteria provided, single submitter clinical testing

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