ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6563A>G (p.Gln2188Arg)

gnomAD frequency: 0.00005  dbSNP: rs1057344564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705223 SCV000834210 uncertain significance Epileptic encephalopathy 2021-08-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 581409). This variant has not been reported in the literature in individuals affected with FASN-related conditions. This sequence change replaces glutamine with arginine at codon 2188 of the FASN protein (p.Gln2188Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.

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