Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151486 | SCV000199557 | likely pathogenic | Usher syndrome | 2019-05-09 | criteria provided, single submitter | clinical testing | The p.Leu528Arg variant in MYO7A has been identified by our laboratory in the homozygous state in 1 Lebanese individual with clinical features consistent with type 1 Usher syndrome (congenital profound sensorineural hearing loss, delayed walking, generalized retinal degeneration and night blindness). Both parents were heterozygous for the variant and the variant segregated in the homozygous state in an affected sibling. This variant was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome. ACMG/AMP criteria applied: PM2, PP1, PP3, PP4, PM3_Supporting. |
King Laboratory, |
RCV001808415 | SCV002059922 | likely pathogenic | Usher syndrome type 1 | 2020-08-01 | criteria provided, single submitter | research | MYO7A c.1583T>G, p.L528R alters a highly conserved residue of MYO7A. The variant is compound heterozygous with MYO7A c.2630insG p.W2077fs in three Palestinian children with moderate to severe hearing loss and Usher syndrome type I (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and absent from gnomAD v2.1.1. |