ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226795 SCV003923039 likely pathogenic Leigh syndrome 2023-03-29 criteria provided, single submitter clinical testing Variant summary: FBXL4 c.1435_1440delinsGAAAAAT (p.Lys479GlufsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory or other ClinVar submitters. The variant was absent in 249596 control chromosomes. To our knowledge, no occurrence of c.1435_1440delinsGAAAAAT in individuals affected with Leigh Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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