ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.844A>T (p.Thr282Ser) (rs876658621)

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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 RCV000217998 SCV000274123 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-08 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
Invitae RCV000635551 SCV000756967 uncertain significance Multiple fibrofolliculomas 2017-11-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 282 of the FLCN protein (p.Thr282Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. 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: 230538). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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