Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074758 | SCV001240353 | pathogenic | Retinal dystrophy | 2019-05-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001225544 | SCV001397827 | pathogenic | Leber congenital amaurosis 13 | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 149 of the RDH12 protein (p.Leu149Pro). This variant is present in population databases (rs747257567, gnomAD 0.009%). This missense change has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 23900199). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 866614). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002282454 | SCV002571652 | likely pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23900199, 31736247) |