ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4487T>C (p.Val1496Ala)

gnomAD frequency: 0.00001  dbSNP: rs779132856
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070316 SCV001235538 uncertain significance Epileptic encephalopathy 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1496 of the FASN protein (p.Val1496Ala). This variant is present in population databases (rs779132856, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 863364). 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. 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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