Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220465 | SCV000271471 | pathogenic | Rare genetic deafness | 2015-11-19 | criteria provided, single submitter | clinical testing | The c.486-1G>C variant in USH2A has been reported in at least one individual wit h hearing loss (Cremers 2007), and was absent from large population studies. Thi s variant occurs in the invariant region (- 1,2) of the splice consensus sequenc e and is predicted to cause altered splicing leading to an abnormal or absent pr otein. Loss of function of the USH2A gene is an established disease mechanism in Usher syndrome. In summary, this variant meets our criteria to be classified as pathogenic for autosomal recessive Usher syndrome based on the predicted impact of the variant. |
Gene |
RCV000578546 | SCV000680587 | pathogenic | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | The c.486-1 G>C splice site variant in the USH2A gene has been previously reported in association with Usher syndrome (Cremers et al., 2007; Neuhaus et al., 2017). This variant destroys the canonical splice acceptor site in intron 2, and is expected to cause abnormal gene splicing. The c.486-1 G>C variant is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we consider c.486-1G>C to be pathogenic. |
Illumina Clinical Services Laboratory, |
RCV001097549 | SCV001253839 | uncertain significance | Retinitis pigmentosa | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV001097550 | SCV001253840 | uncertain significance | Usher syndrome, type 2A | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Counsyl | RCV000667749 | SCV000792248 | likely pathogenic | Retinitis pigmentosa 39 | 2017-06-13 | no assertion criteria provided | clinical testing |