ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1066C>G (p.Leu356Val) (rs757313788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705955 SCV000834981 uncertain significance Multiple fibrofolliculomas 2018-11-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 356 of the FLCN protein (p.Leu356Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs757313788, ExAC 0.008%). This variant has not been reported in the literature in individuals with FLCN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV001009833 SCV001169947 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-01 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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