ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.2957C>T (p.Ala986Val)

gnomAD frequency: 0.00001  dbSNP: rs750638732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637153 SCV000758601 uncertain significance Epileptic encephalopathy 2022-10-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 531043). This variant has not been reported in the literature in individuals affected with FASN-related conditions. This variant is present in population databases (rs750638732, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 986 of the FASN protein (p.Ala986Val).

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