Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000819894 | SCV001493542 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-09-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the SPTAN1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPTAN1 are known to be pathogenic (PMID: 31332438, 33206935). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001387712 | SCV001588400 | pathogenic | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2022-09-19 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the COQ4 gene has been identified. Loss-of-function variants in COQ4 are known to be pathogenic (PMID: 25658047). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of COQ4 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 22368301). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects COQ4 function (PMID: 22368301). For these reasons, this variant has been classified as Pathogenic. |