Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195925 | SCV000251674 | uncertain significance | not provided | 2014-12-17 | criteria provided, single submitter | clinical testing | p.Asp680Val (GAT>GTT): c.2039 A>T in exon 20 of the LRPPRC gene (NM_133259.3). The D680V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D680V variant 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. This substitution occurs at a position that is moderately conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s). |
Natera, |
RCV001833148 | SCV002076562 | uncertain significance | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2020-10-27 | no assertion criteria provided | clinical testing |