ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1584del (p.Glu530fs) (rs1131690827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492254 SCV000580725 likely pathogenic Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000657381 SCV000779114 likely pathogenic not provided 2017-09-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in FLCN is denoted c.1584delC at the cDNA level and p.Glu530ArgfsX7 (E530RfsX7) at the protein level. The normal sequence, with the base that is deleted in brackets, is GACC[delC]AAAG. The deletion causes a frameshift which changes a Glutamic Acid to an Arginine at codon 530, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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