Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513707 | SCV003522730 | uncertain significance | Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity | 2022-03-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp118Alafs*160) in the B3GALT6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 212 amino acid(s) of the B3GALT6 protein. This variant is present in population databases (rs750088530, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with B3GALT6-related conditions (PMID: 23664117, 31614862). ClinVar contains an entry for this variant (Variation ID: 60490). 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. |
OMIM | RCV000054396 | SCV000082873 | pathogenic | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 2013-06-06 | no assertion criteria provided | literature only |