Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456790 | SCV000544595 | likely pathogenic | Charcot-Marie-Tooth disease, type 4A | 2016-08-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion that includes the first 96 nucleotides of exon 3 and the last 1790 nucleotides of intron 2 of the GDAP1 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a GDAP1-related disease. This deletion encompasses a region of the GDAP1 protein where a significant number of previously reported GDAP1 missense mutations are found (PMID: 12601710, 14561495, 21753178, 23628762). These observations suggest that this region of GDAP1 is functionally important. For these reasons, this variant has been classified as Likely Pathogenic. |