ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6659G>A (p.Arg2220His)

gnomAD frequency: 0.00001  dbSNP: rs761888209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210748 SCV001382249 uncertain significance Epileptic encephalopathy 2019-08-14 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with FASN-related conditions. This variant is present in population databases (rs761888209, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 2220 of the FASN protein (p.Arg2220His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine.

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