ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1440dup (p.Leu481fs)

dbSNP: rs879255542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224238 SCV000281111 likely pathogenic not provided 2016-04-29 criteria provided, single submitter clinical testing
3billion RCV002283469 SCV002573265 pathogenic Mitochondrial DNA depletion syndrome 13 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with FBXL4 -related disorder (ClinVar ID: VCV000235493). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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