Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032824 | SCV001196131 | uncertain significance | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity | 2019-11-25 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the B3GALT6 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 B3GALT6 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19492091). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in B3GALT6 cause disease. 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. |