ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.778+6C>T

gnomAD frequency: 0.00001  dbSNP: rs747631706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557737 SCV000635041 uncertain significance Epileptic encephalopathy 2021-08-28 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the FASN gene. It does not directly change the encoded amino acid sequence of the FASN protein. It affects a nucleotide within the consensus splice site of the intron. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: 462114). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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