Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000615437 | SCV000731480 | likely pathogenic | Rare genetic deafness | 2017-06-22 | criteria provided, single submitter | clinical testing | The deletion of exon 22 in LARS2 has been identified by our laboratory in 1 indi vidual with hearing loss who was compound heterozygous for this variant and a se cond LARS2 variant, and both variants segregated with hearing loss in an affecte d sibling. The variant was absent from large population databases. This variant results in the deletion of the last exon of LARS2, including part of the C-termi nal domain of the protein product as well as the 3' untranslated region of the g ene, and is predicted to result in an absent or truncated protein. Variants resu lting in a loss-of-function or partial function of the LARS2 protein have been r eported in individuals with Perrault syndrome (Pierce 2013), however additional studies are needed to establish the mechanism of disease. In summary, although a dditional studies are required to fully establish its clinical significance, the exon 22 deletion variant is likely pathogenic. |