Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041823 | SCV000065519 | likely pathogenic | Rare genetic deafness | 2018-06-21 | criteria provided, single submitter | clinical testing | The c.3158-6A>G variant in USH2A has been reported in two individuals with Usher syndrome who were each compound heterozygous with another truncating variant in USH2A (Carss 2017, LMM unpublished data). This variant was absent from large p opulation databases. Splice prediction tools suggest that this variant may disru pt the native 3' splice site and produce a new splice site 5 base pairs upstream , which would result on a frameshift. In summary, although additional studies ar e required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP criteria applied: PM3_Strong, PM2, PP3, PP4. |
Baylor Genetics | RCV003460551 | SCV004206430 | likely pathogenic | Retinitis pigmentosa 39 | 2022-03-30 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000505082 | SCV000598805 | likely pathogenic | Usher syndrome | 2015-01-01 | no assertion criteria provided | research |