Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214963 | SCV001386674 | uncertain significance | Usher syndrome type 3B | 2019-07-07 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the HARS mRNA. The next in-frame methionine is located at codon 70. 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. This variant has not been reported in the literature in individuals with HARS-related conditions. This variant is not present in population databases (ExAC no frequency). |