ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1787del (p.Ser596fs)

dbSNP: rs2128374840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV001837059 SCV002097324 likely pathogenic Mitochondrial DNA depletion syndrome 13 2022-02-15 no assertion criteria provided clinical testing This novel homozygous variant c.1787delC (p.Ser596CysfsTer9) has been identified in a 6 day female with severe respiratory distress and encephalopathy. There were features of metabolic acidosis, hyperammonaemia and increased lactate to pyruvate ratio. There was a history of sibling death in the neonatal period.

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