ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.586A>G (p.Ile196Val) (rs201078144)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464556 SCV000549447 uncertain significance Multiple fibrofolliculomas 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 196 of the FLCN protein (p.Ile196Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs201078144, ExAC 0.002%). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 41859). 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.
Ambry Genetics RCV001024623 SCV001186669 likely benign Hereditary cancer-predisposing syndrome 2020-09-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034793 SCV000043269 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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