ClinVar Miner

Submissions for variant NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)

dbSNP: rs2037617604
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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 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

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