ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.656-3C>T

gnomAD frequency: 0.00016  dbSNP: rs371336911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206793 SCV001378120 uncertain significance Epileptic encephalopathy 2022-08-21 criteria provided, single submitter clinical testing This sequence change falls in intron 5 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. This variant is present in population databases (rs371336911, gnomAD 0.04%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 937713). This variant has not been reported in the literature in individuals affected with FASN-related conditions.

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