ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.128_130delinsATT (p.Gly43_Leu44delinsAspPhe) (rs1555669729)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637174 SCV000758622 uncertain significance Epileptic encephalopathy 2017-08-22 criteria provided, single submitter clinical testing This variant, c.128_130delGGCinsATT, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 2 amino acids of the FASN protein (p.Gly43_Leu44delinsAspPhe). This variant also falls at the first nucleotide of exon 3 of the FASN coding sequence. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FASN-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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