ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1285_1286insG (p.His429fs) (rs1555607651)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479575 SCV000565009 pathogenic not provided 2015-10-30 criteria provided, single submitter clinical testing The insertion causes a frameshift starting with codon Histidine 429, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 27 of the new reading frame, denoted p.His429ArgfsX27. This pathogenic variant is predicted to cause loss of normal protein function through either premature protein truncation or nonsense-mediated mRNA decay.

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