ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.708del (p.Asn236fs)

dbSNP: rs886039369
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254784 SCV000321656 pathogenic not provided 2025-03-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001389700 SCV001591151 pathogenic Birt-Hogg-Dube syndrome 2021-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 265153). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn236Lysfs*6) 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).
Ambry Genetics RCV002365271 SCV002664050 pathogenic Hereditary cancer-predisposing syndrome 2022-10-24 criteria provided, single submitter clinical testing The c.708delC pathogenic mutation, located in coding exon 4 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 708, causing a translational frameshift with a predicted alternate stop codon (p.N236Kfs*6). 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.
Myriad Genetics, Inc. RCV001389700 SCV004189018 pathogenic Birt-Hogg-Dube syndrome 2023-07-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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