Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV001260985 | SCV001468548 | likely pathogenic | Mitochondrial complex 4 deficiency, nuclear type 19 | 2020-12-04 | criteria provided, single submitter | curation | This variant is interpreted as Likely pathogenic for Mitochondrial complex IV deficiency,nuclear type 19, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Protein length changes as a result of in-frame deletions/insertions in a nonrepeat region or stop-loss variants (PM4); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate). |
OMIM | RCV001260985 | SCV001438359 | pathogenic | Mitochondrial complex 4 deficiency, nuclear type 19 | 2020-10-23 | no assertion criteria provided | literature only |