ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3548C>T (p.Ser1183Leu)

gnomAD frequency: 0.00001  dbSNP: rs776209432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821410 SCV000962165 uncertain significance Epileptic encephalopathy 2021-07-21 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 663518). This variant is present in population databases (rs776209432, ExAC 0.01%). This sequence change replaces serine with leucine at codon 1183 of the FASN protein (p.Ser1183Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine.

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