Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004981092 | SCV005596660 | uncertain significance | Inborn genetic diseases | 2024-10-01 | criteria provided, single submitter | clinical testing | The c.2108G>A (p.R703H) alteration is located in exon 22 (coding exon 22) of the GPHN gene. This alteration results from a G to A substitution at nucleotide position 2108, causing the arginine (R) at amino acid position 703 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003841598 | SCV004693066 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2023-06-18 | 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 expected to disrupt GPHN protein function. This variant has not been reported in the literature in individuals affected with GPHN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 703 of the GPHN protein (p.Arg703His). |