ClinVar Miner

Submissions for variant NM_002488.5(NDUFA2):c.225del (p.Asn76fs)

dbSNP: rs863224084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514072 SCV000251792 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in abnormal protein length as the last 24 amino acids are replaced with 3 different amino acids; This variant is associated with the following publications: (PMID: 27159321, 32154054, 28857146, 33233646, 32304865)
MyeliNeuroGene Lab, McGill University Health Center Research Institute RCV000515932 SCV000584199 pathogenic Cystic Leukoencephalopathy criteria provided, single submitter research This is the first report of autosomal recessive mutations in NDUFA2 associated with cystic leukoencephalopathy.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514072 SCV000610210 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing
OMIM RCV001256007 SCV001432784 pathogenic Mitochondrial complex 1 deficiency, nuclear type 13 2020-09-17 no assertion criteria provided literature only

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