ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.65C>T (p.Thr22Met) (rs768734584)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456284 SCV000549460 uncertain significance Multiple fibrofolliculomas 2019-12-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 22 of the FLCN protein (p.Thr22Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs768734584, ExAC 0.02%). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 409394). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV000574639 SCV000673444 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-18 criteria provided, single submitter clinical testing Insufficient evidence

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