ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter)

gnomAD frequency: 0.00001  dbSNP: rs372691318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558587 SCV001780570 pathogenic not provided 2023-06-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22310368, 16213125, 25525159, 22272371, 22523683, 20382551, 19703648, 19255735, 11349233, 36403546, 35551180, 34670123)
Institute of Human Genetics, University of Leipzig Medical Center RCV000043635 SCV002102457 pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 2022-02-22 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_005006.7:c.2006A>G._x000D_ Criteria applied: PVS1, PM3, PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV001558587 SCV003292302 pathogenic not provided 2022-09-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 50923). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with mitochondrial complex I deficiency (PMID: 11349233). This variant is present in population databases (rs372691318, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg557*) 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).
OMIM RCV000043635 SCV000071660 pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 2010-07-01 no assertion criteria provided literature only

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