Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659027 | SCV000780831 | likely pathogenic | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000660455 | SCV000782548 | likely pathogenic | Usher syndrome, type 3B; Charcot-Marie-Tooth disease, axonal, type 2w | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000807497 | SCV000947553 | uncertain significance | Usher syndrome, type 3B | 2018-08-20 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 1 of the HARS 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 not been reported in the literature in individuals with HARS-related disease. 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 HARS 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. |