ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.521_527del (p.Thr174fs) (rs1085307478)

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Total submissions: 2
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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.
Invitae RCV001064850 SCV001229777 pathogenic Multiple fibrofolliculomas 2019-12-29 criteria provided, single submitter clinical testing 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 is not present in population databases (ExAC no frequency). 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). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.

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