Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001871956 | SCV002238544 | pathogenic | Jeune thoracic dystrophy; Nephronophthisis | 2022-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the TTC21B gene has been identified. Loss-of-function variants in TTC21B are known to be pathogenic (PMID: 18327258, 21068128, 21258341, 23559409, 24876116, 25492405, 27491411, 29068549). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |
| Labcorp Genetics |
RCV001362895 | SCV001558944 | pathogenic | not provided | 2022-07-25 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the GALNT3 gene has been identified. Loss-of-function variants in GALNT3 are known to be pathogenic (PMID: 15133511, 20358599). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with GALNT3-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001381177 | SCV001579459 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2020-10-08 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SCN2A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of SCN2A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19400878, 23662938). Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168). For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001387893 | SCV001588633 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2020-10-08 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SCN9A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of SCN9A have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 23662938, 19400878). Loss-of-function variants in SCN9A are known to be pathogenic (PMID: 17470132, 19304393). For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV001390921 | SCV001592800 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-10-08 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SCN1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed in individual(s) with Dravet syndrome (PMID: 17561957, 16865694, 20522430, 21719429, 26068938). In at least one individual the variant was observed to be de novo. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic. |