ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485925 SCV000567086 pathogenic not provided 2015-06-30 criteria provided, single submitter clinical testing The c.49delC variant in the FLCN gene causes a frameshift starting with codon Arginine 17, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 38 of the new reading frame, denoted p.Arg17AlafsX38. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this deletion has not been previously reported to our knowledge, we interpret it as a pathogenic variant.

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