Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673272 | SCV000798455 | pathogenic | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2018-03-18 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000826153 | SCV000967688 | pathogenic | Usher syndrome; Rare genetic deafness | 2018-07-20 | criteria provided, single submitter | clinical testing | The p.Cys870X variant in USH2A has been previously reported in >10 probands with Usher syndrome, who were either homozygous or compound heterozygous for another USH2A variant (Baux 2017, Bonnet 2016, Comander 2017, Krawitz 2014, Le Quesne S tabej 2012, Neuhaus 2017, Sodi 2014, Weisschuh 2016). This variant has been iden tified in 0.003% (4/126016) of European chromosomes by the Genome Aggregation Da tabase (gnomAD, http://gnomad.broadinstitute.org); however, its frequency is low enough to be consistent with a recessive carrier frequency. This nonsense varia nt leads to a premature termination codon at position 870, which is predicted to lead to a truncated or absent protein. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome based on t he previously reported probands with Usher syndrome, the predicted impact of the variant, and its low frequency in the general population. ACMG/AMP criteria app lied: PVS1, PM3_VeryStrong, PM2, PP4. |
Blueprint Genetics | RCV001075425 | SCV001241048 | pathogenic | Retinal dystrophy | 2018-08-07 | criteria provided, single submitter | clinical testing |