ClinVar Miner

Submissions for variant NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) (rs28939714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000006390 SCV000930057 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 8 2019-01-23 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Mitochondrial complex I deficiency, nuclear type 8, autosomal recessive. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:14729820). PM3 : For recessive disorders, detected in trans with a pathogenic variant (PMID:14729820).
OMIM RCV000006390 SCV000026572 pathogenic Mitochondrial complex 1 deficiency, nuclear type 8 2004-01-01 no assertion criteria provided literature only

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