ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1213dup (p.Tyr405fs)

dbSNP: rs1131690837
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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 RCV000492570 SCV000580749 pathogenic Hereditary cancer-predisposing syndrome 2019-09-17 criteria provided, single submitter clinical testing The c.1213dupT pathogenic mutation, located in coding exon 8 of the FLCN gene, results from a duplication of T at nucleotide position 1213, causing a translational frameshift with a predicted alternate stop codon (p.Y405Lfs*51). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV000817465 SCV000958027 pathogenic Birt-Hogg-Dube syndrome 2022-11-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr405Leufs*51) in the FLCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). ClinVar contains an entry for this variant (Variation ID: 428651). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FLCN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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