Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188754 | SCV000242378 | uncertain significance | not provided | 2017-07-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PRICKLE1 gene. The Q630E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations but the 1000 Genomes Project reports Q630E was observed in 1/162 (0.5%) alleles from individuals of Punjabi background. The Q630E variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, 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. |
Invitae | RCV000375035 | SCV000551472 | likely benign | Epilepsy, progressive myoclonic, 1B | 2024-01-02 | criteria provided, single submitter | clinical testing |