ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.49dup (p.Arg17fs) (rs758385503)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494484 SCV000582482 pathogenic not provided 2015-09-03 criteria provided, single submitter clinical testing The c.49dupC duplication in the FLCN gene causes a frameshift starting with codon Arginine 17, changes this amino acid to a Proline residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Arg17ProfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.49dupC as a pathogenic variant.
Mendelics RCV000989762 SCV001140315 pathogenic Multiple fibrofolliculomas 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197006 SCV001367641 pathogenic Cardiomyopathy; Global developmental delay; Waddling gait; Short stature; Choanal atresia; Microcephaly; Delayed cranial suture closure; Proximal muscle weakness in lower limbs; Small hand 2018-10-31 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS2,PM2,PP3. This variant was detected in heterozygous state.

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