Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000686556 | SCV000814079 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 43 of the GPHN protein (p.Val43Ile). This variant is present in population databases (rs117256383, gnomAD 0.05%). This missense change has been observed in individual(s) with juvenile myoclonic epilepsy with generalized tonic-clonic seizures (PMID: 29948376). ClinVar contains an entry for this variant (Variation ID: 566679). 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 GPHN protein function with a negative predictive value of 80%. 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, |
RCV002507188 | SCV002812248 | uncertain significance | Hyperekplexia 1; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004721550 | SCV005328141 | uncertain significance | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29948376) |
3billion | RCV000686556 | SCV005328720 | likely benign | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2024-09-20 | criteria provided, single submitter | clinical testing | The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant. |