Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000185987 | SCV000238946 | uncertain significance | not provided | 2016-07-26 | criteria provided, single submitter | clinical testing | The K126N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K126N variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations; however, K126N was observed in the homozygous state in one individual of Latino background in the Exome Aggregation Consortium (ExAC) database. The K126N 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 where amino acids with similar properties to Lysine are tolerated 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. |
| Invitae | RCV001087032 | SCV001036473 | likely benign | Methylmalonic aciduria and homocystinuria type cblF | 2024-01-25 | criteria provided, single submitter | clinical testing |