ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5103G>A (p.Ser1701=) (rs752285807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423133 SCV000526253 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000814445 SCV000954855 uncertain significance Epileptic encephalopathy 2018-12-17 criteria provided, single submitter clinical testing This sequence change affects codon 1701 of the FASN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FASN protein. This variant is present in population databases (rs752285807, ExAC 0.03%). This variant has not been reported in the literature in individuals with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 385110). 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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