ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)

gnomAD frequency: 0.00016  dbSNP: rs75666426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002489139 SCV002793923 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2022-05-23 criteria provided, single submitter clinical testing
GeneDx RCV003105917 SCV003761706 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477869 SCV000536744 uncertain significance Mitochondrial complex I deficiency 2016-06-23 no assertion criteria provided research

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