Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201184 | SCV000255779 | pathogenic | Charcot-Marie-Tooth disease, type 4A | 2014-05-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000201184 | SCV000784291 | pathogenic | Charcot-Marie-Tooth disease, type 4A | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000661961 | SCV000784292 | pathogenic | Charcot-Marie-Tooth disease type 2K | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000661962 | SCV000784293 | pathogenic | Charcot-Marie-Tooth disease, recessive intermediate A | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760441 | SCV000890324 | pathogenic | not provided | 2018-09-19 | criteria provided, single submitter | clinical testing | The R125X variant in the GDAP1 gene has been reported previously in the compound heterozygous and homozygous states in association with early-onset CMT, type 4A (Moroni et al., 2009; Fusco et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R125X variant is observed in 2/34,420 (0.006%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). We interpret R125X as a pathogenic variant. |