Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000196886 | SCV000251669 | uncertain significance | not provided | 2013-09-17 | criteria provided, single submitter | clinical testing | p.Ser404Tyr (TCC>TAC): c.1211 C>A in exon 10 of the LRPPRC gene (NM_133259.3). The S404Y missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. S404Y is a conservative amino acid substitution of one uncharged, polar amino acid for another. The variant alters a position in the protein that is not highly conserved across species. In silico algorithms are not consistent in their prediction of whether or not S404Y is damaging to the structure/function of the LRPPRC protein. Therefore, based on the currently available information, it is unclear whether S404Y is a disease-causing mutation or a rare benign variant. The variant is found in LSME-MITOP panel(s). |
Natera, |
RCV001833147 | SCV002076569 | uncertain significance | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2019-11-11 | no assertion criteria provided | clinical testing |