Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000354047 | SCV000329602 | uncertain significance | not provided | 2017-07-11 | criteria provided, single submitter | clinical testing | The R28G variant in the ACTB gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R28G 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. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Baylor Genetics | RCV000850524 | SCV000992730 | likely pathogenic | Baraitser-Winter syndrome 1 | 2017-12-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001533044 | SCV001748864 | likely pathogenic | ACTB-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing |