Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486116 | SCV000571460 | uncertain significance | not provided | 2016-08-19 | criteria provided, single submitter | clinical testing | The c.2264_2265delTCinsGT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2264_2265delTCinsGT variant 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. The c.2264_2265delTCinsGT variant results in a non-conservative amino acid substitution of an Isoleucine residue for a Serine residue (I755S), 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 conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function.However, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. |