Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608365 | SCV000731430 | likely pathogenic | Rare genetic deafness | 2017-06-22 | criteria provided, single submitter | clinical testing | The p.Pro507Arg variant in LARS2 has been identified by our laboratory in 1 indi vidual with hearing loss who was compound heterozygous for this variant and a li kely pathogenic LARS2 variant, and both variants segregated with hearing loss in an affected sibling. The variant was absent from large population studies. In a ddition, computational prediction tools and conservation analysis suggest the va riant may impact the protein. In summary, although additional studies are requir ed to fully establish its clinical significance, the p.Pro507Arg variant is like ly pathogenic. |