Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236810 | SCV001409547 | pathogenic | Charcot-Marie-Tooth disease type 4A | 2019-09-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys207Glufs*4) 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 variant has not been reported in the literature in individuals with GDAP1-related conditions. Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580, 20685671). For these reasons, this variant has been classified as Pathogenic. |