ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1300+5G>A

gnomAD frequency: 0.00001  dbSNP: rs746264578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466503 SCV000549467 uncertain significance Birt-Hogg-Dube syndrome 2024-01-28 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the FLCN gene. It does not directly change the encoded amino acid sequence of the FLCN protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 409400). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 11 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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