ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs) (rs1439151268)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530010 SCV000632855 uncertain significance Multiple fibrofolliculomas 2018-05-24 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 14 of the FLCN mRNA (c.1599_1600dupGA), causing a frameshift at codon 534. This creates a premature translational stop signal in the last exon of the FLCN mRNA (p.Lys534Argfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acids of the FLCN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 460604). This variant is expected to disrupt a portion of the C-terminal region of the FLCN protein containing the minimal binding region for interaction with FNIP1/2 (residues 517-579) (PMID: 17028174, 18403135, 18663353, 22977732). However, experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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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