ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.233del (p.Lys78fs) (rs1555611377)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657165 SCV000778885 pathogenic not provided 2017-10-27 criteria provided, single submitter clinical testing This deletion of one nucleotide in FLCN is denoted c.233delA at the cDNA level and p.Lys78SerfsX52 (K78SfsX52) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAAA[delA]GTCG. The deletion causes a frameshift which changes a Lysine to a Serine at codon 78, and creates a premature stop codon at position 52 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. FLCN c.233delA has been reported in at least one individual with fibrofolliculomas (Rossing 2016). We consider this variant to be pathogenic.

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