ClinVar Miner

Submissions for variant NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)

gnomAD frequency: 0.00001  dbSNP: rs28939679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442702 SCV000520845 likely pathogenic not provided 2023-03-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20819849, 36557887, 9837812)
Fulgent Genetics, Fulgent Genetics RCV000762861 SCV000893225 likely pathogenic Leigh syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000007941 SCV000028146 pathogenic Mitochondrial complex 1 deficiency, nuclear type 2 1998-12-01 no assertion criteria provided literature only

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