ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5447C>T (p.Ala1816Val)

dbSNP: rs1389792090
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203519 SCV001374687 uncertain significance Epileptic encephalopathy 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1816 of the FASN protein (p.Ala1816Val). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 935015). This variant has not been reported in the literature in individuals affected with FASN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%).

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