ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr)

gnomAD frequency: 0.00036  dbSNP: rs146837138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197548 SCV000251239 uncertain significance not provided 2022-01-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000765487 SCV000896782 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276988 SCV001463718 uncertain significance Mitochondrial complex I deficiency 2020-01-17 no assertion criteria provided clinical testing

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