Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001757963 | SCV001987980 | uncertain significance | not provided | 2024-05-15 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV001882830 | SCV002279330 | uncertain significance | ALG9 congenital disorder of glycosylation | 2022-09-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 141 of the ATP6V0A2 protein (p.Arg141His). This variant is present in population databases (rs143509747, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ATP6V0A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1303408). 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 ATP6V0A2 protein function. 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. |
| Fulgent Genetics, |
RCV002496074 | SCV002794140 | uncertain significance | Cutis laxa with osteodystrophy; Wrinkly skin syndrome | 2021-12-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004968244 | SCV005519670 | uncertain significance | Inborn genetic diseases | 2024-07-08 | criteria provided, single submitter | clinical testing | The c.422G>A (p.R141H) alteration is located in exon 4 (coding exon 4) of the ATP6V0A2 gene. This alteration results from a G to A substitution at nucleotide position 422, causing the arginine (R) at amino acid position 141 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |