Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197458 | SCV000252317 | likely pathogenic | not provided | 2014-07-03 | criteria provided, single submitter | clinical testing | p.Leu175Pro (CTG>CCG): c.524 T>C in exon 4 of the SPG7 gene (NM_003119.2). The L175P 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 that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in OAPEO-MITOP panel(s). |