Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003154288 | SCV003843969 | uncertain significance | not provided | 2022-08-03 | criteria provided, single submitter | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the DDX41 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with DDX41-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Labcorp Genetics |
RCV003232857 | SCV003791914 | uncertain significance | Sotos syndrome | 2022-07-25 | flagged submission | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the NSD1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Isolated whole-gene copy number gains of NSD1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 16770806, 17090394, 21567906, 23599694, 23913520, 24819041, 28128410, 33389145). 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 NSD1 function (PMID: 33389145). 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. |
| Labcorp Genetics |
RCV003116717 | SCV003792926 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2022-07-25 | flagged submission | clinical testing | A copy number gain of the genomic region encompassing the full coding sequence of the ADAMTS2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with ADAMTS2-related conditions. 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. |