ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1062+5_1062+6delinsTT

dbSNP: rs2144892935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870625 SCV002136632 uncertain significance Birt-Hogg-Dube syndrome 2021-05-28 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FLCN-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change falls in intron 9 of the FLCN gene. It does not directly change the encoded amino acid sequence of the FLCN protein. It affects a nucleotide within the consensus splice site of the intron.

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