Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002272270 | SCV002558207 | likely pathogenic | not provided | 2022-01-13 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acids in a non-repeat region predicted to critically alter the protein; This variant is associated with the following publications: (PMID: 28942965, 32652806, 34419324, 33113594, 33113593) |
Invitae | RCV002272270 | SCV003443729 | uncertain significance | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | This variant, c.562_564del, results in the deletion of 1 amino acid(s) of the C1QBP protein (p.Tyr188del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs755568057, gnomAD 0.008%). This variant has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 28942965, 32652806). ClinVar contains an entry for this variant (Variation ID: 441246). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
OMIM | RCV000509581 | SCV000607725 | pathogenic | Combined oxidative phosphorylation deficiency 33 | 2018-08-16 | no assertion criteria provided | literature only |