Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413407 | SCV000490911 | likely pathogenic | not provided | 2015-03-09 | criteria provided, single submitter | clinical testing | The G172R variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The G172R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structureas these residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species. In silico analysis predicts this variant is probably damaging to theprotein structure/function. Therefore, this variant is a strong candidate for a pathogenic variant, howeverthe possibility that it is a benign variant cannot be excluded. |
Natera, |
RCV001275864 | SCV001461496 | likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |