Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001567412 | SCV001791090 | likely pathogenic | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28942965, 32652806, 34003581, 33113594, 33113593, 27535533) |
Invitae | RCV001567412 | SCV003442476 | pathogenic | not provided | 2023-10-14 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 204 of the C1QBP protein (p.Phe204Leu). This variant is present in population databases (rs767427194, gnomAD 0.005%). This missense change has been observed in individual(s) with C1QBP-related conditions (PMID: 28942965, 32652806, 34003581). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 441242). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000509576 | SCV000607721 | pathogenic | Combined oxidative phosphorylation deficiency 33 | 2017-10-12 | no assertion criteria provided | literature only |