ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1468C>T (p.Arg490Cys) (rs533081221)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432108 SCV000511627 uncertain significance not provided 2016-08-05 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000432108 SCV000895145 uncertain significance not provided 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000804925 SCV000944863 uncertain significance Epileptic encephalopathy 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 490 of the FASN protein (p.Arg490Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs533081221, ExAC 0.03%). This variant has not been reported in the literature in individuals with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 377274). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.

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