Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003634665 | SCV004410486 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2023-05-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg345Glyfs*89) in the CHST14 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the CHST14 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHST14-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. |