Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000366418 | SCV000329934 | pathogenic | not provided | 2016-07-20 | criteria provided, single submitter | clinical testing | The c.501delA pathogenic variant in the GDAP1 gene has been reported previously in association with CMT; however, additional clinical information and inheritance pattern were not reported (DiVincenzo et al., 2015). The c.501delA deletion causes a frameshift starting with codon Glutamic acid 168, changes this amino acid to a Serine residue and creates a premature Stop codon at position4 of the new reading frame, denoted p.Glu168SerfsX4. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |
Inherited Neuropathy Consortium | RCV000789712 | SCV000929088 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |