Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Knight Diagnostic Laboratories, |
RCV000454167 | SCV000538070 | pathogenic | Leber congenital amaurosis 15 | 2015-09-26 | criteria provided, single submitter | clinical testing | he c.1495+1 G>A canonical splice-donor variant in the TULP1 gene has been previously reported to co-segregate with disease in two Dominican family pedigrees and all individuals (n=33) who were diagnosed with arRP within these two pedigrees were found to be homozygous for the variant (Banerjee P et al., 1998; Lewis CA et al., 1999). An in vitro splicing assay (Abbasi AH et al, 2008) showed that the variant results in aberrant splicing. In a mouse model, the G>T transversion at this locus also resulted in abnormal RNA splicing products (Noben-Trauth K et al., 1996). Additionally, computational algorithms predict evolutionary conservation at this locus and a loss of the splice-donor site. The frequency of this variant is absent in the population databases (1000 Genome, Exome Sequencing Project and ExAC) |
Blueprint Genetics | RCV001075035 | SCV001240646 | pathogenic | Retinal dystrophy | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000086071 | SCV001248680 | pathogenic | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086071 | SCV000118215 | not provided | not provided | no assertion provided | not provided | ||
Knight Diagnostic Laboratories, |
RCV000454250 | SCV000538071 | pathogenic | Retinitis pigmentosa 14 | 2015-09-26 | no assertion criteria provided | clinical testing | |
Faculty of Health Sciences, |
RCV001257785 | SCV001434648 | pathogenic | Autosomal recessive retinitis pigmentosa | 2015-09-10 | no assertion criteria provided | literature only |