Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474397 | SCV000563974 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate C | 2016-11-24 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-3 of the YARS gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in an individual with a YARS-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in YARS cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. |