ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.315A>G (p.Lys105=) (rs759011359)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804725 SCV000944647 uncertain significance Multiple fibrofolliculomas 2019-12-16 criteria provided, single submitter clinical testing This sequence change affects codon 105 of the FLCN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FLCN protein. This variant is present in population databases (rs759011359, ExAC 0.006%). This variant has not been reported in the literature in individuals with FLCN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV001018865 SCV001180153 likely benign Hereditary cancer-predisposing syndrome 2019-02-25 criteria provided, single submitter clinical testing

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