Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001334583 | SCV001527465 | uncertain significance | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 2018-03-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Invitae | RCV002546691 | SCV003493568 | uncertain significance | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATPAF2 protein function. ClinVar contains an entry for this variant (Variation ID: 1032471). This variant has not been reported in the literature in individuals affected with ATPAF2-related conditions. This variant is present in population databases (rs770015610, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 238 of the ATPAF2 protein (p.Arg238His). |