ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1203dup (p.Ile402fs) (rs398124526)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000082623 SCV000329353 pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing The c.1203dupC variant in the FLCN gene causes a frameshift starting with codon Isoleucine 402, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Ile402HisfsX54. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000807361 SCV000947409 pathogenic Multiple fibrofolliculomas 2019-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile402Hisfs*54) in the FLCN gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 96473). Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001292861 SCV001481542 pathogenic Pneumothorax, primary spontaneous 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082623 SCV000114665 pathogenic not provided 2013-02-28 no assertion criteria provided clinical testing

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