ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.158del (p.Gln53fs) (rs1131690825)

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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 RCV000492196 SCV000580722 pathogenic Hereditary cancer-predisposing syndrome 2014-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000520861 SCV000616722 pathogenic not provided 2017-09-05 criteria provided, single submitter clinical testing This deletion of one nucleotide in FLCN is denoted c.158delA at the cDNA level and p.Gln53ArgfsX2 (Q53RfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is ATTC[delA]GATG. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 53, and creates a premature stop codon at position 2 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.158delA has been reported in association with Birt-Hogg-Dub? syndrome (Rossing 2016, Whitworth 2016). We consider this variant to be pathogenic.

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