Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494336 | SCV000582310 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | The V408I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 8/14702 (0.054%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). V408I is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Labcorp Genetics |
RCV001037345 | SCV001200755 | likely benign | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263702 | SCV002542858 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing |