ClinVar Miner

Submissions for variant NC_000006.12:g.98905517C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825522 SCV000966837 likely pathogenic Mitochondrial DNA depletion syndrome 2016-11-10 criteria provided, single submitter clinical testing The p.Glu338X variant in FBXL4 has not been reported in individuals with disease and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 338, which is predicted to lead to a tru ncated or absent protein. Biallelic loss of function of the FBXL4 gene has been associated with mitochondrial DNA depletion syndrome 13. In summary, although ad ditional studies are required to fully establish a null effect on the protein, t he p.Glu338X variant in FBXL4 is likely pathogenic for mitochondrial DNA depleti on syndrome 13 in an autosomal recessive manner based upon a predicted null effe ct.

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