ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6825A>G (p.Arg2275=)

dbSNP: rs2509827607
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002853187 SCV003225568 uncertain significance Epileptic encephalopathy 2022-08-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FASN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 2275 of the FASN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FASN protein. It affects a nucleotide within the consensus splice site. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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