ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.521_527del (p.Thr174fs)

dbSNP: rs1085307478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489049 SCV000576534 pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing The c.521_527delCCATCAT variant in the FLCN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This deletion causes a frameshift starting with codon Threonine 174, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Thr174ArgfsX47. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.521_527delCCATCAT to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001064850 SCV001229777 pathogenic Birt-Hogg-Dube syndrome 2020-01-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr174Argfs*47) in the FLCN gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 426160). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235).
Myriad Genetics, Inc. RCV001064850 SCV004189040 pathogenic Birt-Hogg-Dube syndrome 2023-07-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000489049 SCV004227739 likely pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing PM2, PVS1

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