Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000480121 | SCV000565175 | likely pathogenic | not provided | 2018-09-20 | criteria provided, single submitter | clinical testing | The c.375G>A variant in the MPV17 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant destroys the natural splice donor site of intron 5, and is expected to cause abnormal gene splicing. The c.375G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.375G>A as a likely pathogenic variant. |
| Department Of Genetics, |
RCV000761497 | SCV000891616 | likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2017-12-30 | criteria provided, single submitter | curation | |
| Fulgent Genetics, |
RCV000761497 | SCV000893607 | likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Neuberg Centre For Genomic Medicine, |
RCV000761497 | SCV004048063 | likely pathogenic | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | criteria provided, single submitter | clinical testing | The synonymous MPV17 variant c.375G>A(p.Arg125) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg125 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Likely Pathogenic. This p.Arg125 type of mutation causes no change in the protein that is produced, which is why it's considered as synonymous mutation. This variant destroys the natural splice donor site of intron 5, and is expected to cause abnormal gene splicing. For these reasons, this variant has been classified as Likely Pathogenic |