Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726745 | SCV000577486 | uncertain significance | not provided | 2017-03-28 | criteria provided, single submitter | clinical testing | The A308D variant in the CA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A308D variant is observed in 22/7866 (0.28%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The A308D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A308D as a variant of uncertain significance. |
Eurofins Ntd Llc |
RCV000726745 | SCV000702705 | uncertain significance | not provided | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726745 | SCV001061107 | likely benign | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing |