ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.33C>T (p.Cys11=) (rs754616167)

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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 RCV000566419 SCV000673463 likely benign Hereditary cancer-predisposing syndrome 2015-10-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000701230 SCV000830021 uncertain significance Multiple fibrofolliculomas 2018-03-21 criteria provided, single submitter clinical testing This sequence change affects codon 11 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 (rs754616167, ExAC 0.006%). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 485601). 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.

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