ClinVar Miner

Submissions for variant NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)

gnomAD frequency: 0.00003  dbSNP: rs397515440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624409 SCV000742092 likely pathogenic Inborn genetic diseases 2017-06-22 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000043477 SCV001736869 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 21 2020-08-24 criteria provided, single submitter clinical testing
GeneDx RCV005414451 SCV006081392 pathogenic not provided 2024-11-20 criteria provided, single submitter clinical testing Published functional studies found this variant is associated with significantly reduced mitochondrial complex I activity (PMID: 29982452); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30897263, 36868263, 25245479, 35883565, 27597947, 31787496, 23553477, 29982452)
OMIM RCV000043477 SCV000067287 pathogenic Mitochondrial complex 1 deficiency, nuclear type 21 2013-04-23 no assertion criteria provided literature only

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