Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075744 | SCV001241374 | likely pathogenic | Retinal dystrophy | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Sydney Genome Diagnostics, |
RCV002267629 | SCV002549765 | likely pathogenic | Retinitis pigmentosa 54 | 2022-05-25 | criteria provided, single submitter | clinical testing | This individual is homozygous for the c.1984dup variant in the PCARE gene. This frameshifting variant is predicted to create a premature stop codon p.(Thr662Asnfs*18) and may result in a null allele due to nonsense-mediated mRNA decay. The variant has not been reported in any population databases (i.e. gnomAD v2.1.1, ESP or dbSNP). This variant has been previously reported as pathogenic once in the ClinVar database (Variation ID: 856173). Other truncating variants downstream of this amino acid have been also described in the ClinVar database (accessed: 25/5/2022), indicating that loss of function is a well-established mechanism of disease for this gene. This variant is considered to be likely pathogenic according to the ACMG guidelines (evidence used: PVS1, PM2). |