ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.932del (p.Pro311fs) (rs1555608617)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497917 SCV000590345 likely pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The c.932delC variant in the FLCN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This deletion causes a frameshift starting with codon Proline 311, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Pro311LeufsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, c.932delC is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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