ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)

gnomAD frequency: 0.00001  dbSNP: rs747257567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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.
GeneDx 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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.