Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001221088 | SCV001393112 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 555 of the SDHA protein (p.Gly555Glu). This variant is present in population databases (rs137852768, gnomAD 0.003%). This missense change has been observed in individuals with complex II deficiency or Leigh syndrome (PMID: 12794685, 16798039, 20551992). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8745). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000009284 | SCV000029502 | pathogenic | Mitochondrial complex II deficiency, nuclear type 1 | 2010-10-01 | no assertion criteria provided | literature only | |
| OMIM | RCV000009286 | SCV000029504 | pathogenic | Dilated cardiomyopathy 1GG | 2010-10-01 | no assertion criteria provided | literature only |