ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1907dup (p.Val638fs)

dbSNP: rs2509841123
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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 RCV003755578 SCV004427399 uncertain significance Epileptic encephalopathy 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val638Argfs*23) in the FASN gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FASN cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FASN-related conditions. 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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