Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001296628 | SCV001485599 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2020-08-22 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 14 of the GARS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae) and in individual(s) referred for genetic testing for neuropathy (PMID: 25614874). ClinVar contains an entry for this variant (Variation ID: 637501). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GARS cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Inherited Neuropathy Consortium | RCV000789708 | SCV000929084 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
| Inherited Neuropathy Consortium Ii, |
RCV003447237 | SCV004174570 | uncertain significance | Charcot-Marie-Tooth disease type 2D | 2016-01-06 | no assertion criteria provided | literature only |