ClinVar Miner

Submissions for variant NM_002496.4(NDUFS8):c.305G>A (p.Arg102His)

gnomAD frequency: 0.00004  dbSNP: rs121912638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426335 SCV000511314 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000426335 SCV001985389 uncertain significance not provided 2021-01-08 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30055843, 9837812)
OMIM RCV000007942 SCV000028147 pathogenic Mitochondrial complex 1 deficiency, nuclear type 2 1998-12-01 no assertion criteria provided literature only

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