Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000004410 | SCV000544589 | pathogenic | Charcot-Marie-Tooth disease, type 4A | 2019-09-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser194*) in the GDAP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This particular variant has been reported in the homozygous state in individuals affected with Charcot-Marie-Tooth disease (PMID: 11743579, 21840889). ClinVar contains an entry for this variant (Variation ID: 4191). Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580, 20685671). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000760312 | SCV000890166 | pathogenic | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | The S194X nonsense variant in the GDAP1 gene has been reported previously in both the compound heterozygous state and homozygous state in multiple individuals with GDAP1-related disorders (Nelis et al., 2002; Azzedine et al., 2003; Baxter et al., 2002). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S194X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is classified as pathogenic. |
OMIM | RCV000004410 | SCV000024582 | pathogenic | Charcot-Marie-Tooth disease, type 4A | 2003-04-01 | no assertion criteria provided | literature only | |
OMIM | RCV000004411 | SCV000024584 | pathogenic | Charcot-Marie-Tooth disease type 2K | 2003-04-01 | no assertion criteria provided | literature only | |
OMIM | RCV000023562 | SCV000044853 | pathogenic | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 2003-04-01 | no assertion criteria provided | literature only |