Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031772 | SCV001195078 | likely pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2020-02-24 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon 6 of the GPHN gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GPHN-related conditions. Loss-of-function variants in GPHN are known to be pathogenic (PMID: 11095995, 23184456, 23393157). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |