ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)

gnomAD frequency: 0.00001  dbSNP: rs750971390
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493399 SCV002808700 pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 2022-02-27 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002493399 SCV005440568 pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3_Supporting+PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV005092207 SCV005734130 pathogenic not provided 2024-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg22*) in the NDUFS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NDUFS1 are known to be pathogenic (PMID: 11349233, 22200994). This variant is present in population databases (rs750971390, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with clinical features of NDUFS1-related conditions (PMID: 31178897). ClinVar contains an entry for this variant (Variation ID: 626277). For these reasons, this variant has been classified as Pathogenic.
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768438 SCV000899196 pathogenic Mitochondrial complex I deficiency, nuclear type 1 no assertion criteria provided case-control

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