ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)

gnomAD frequency: 0.00003  dbSNP: rs745471670
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001109343 SCV001266670 uncertain significance Retinitis Pigmentosa, Recessive 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.
Invitae RCV000993752 SCV003514361 uncertain significance Leber congenital amaurosis 13 2020-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 65 of the RDH12 protein (p.Arg65Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs745471670, ExAC 0.006%). This variant has been observed in heterozygous form in individual(s) with retinal dystrophy, however it did not segregate with disease in related individuals (PMID: 16269441) Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
3billion RCV000993752 SCV004013635 uncertain significance Leber congenital amaurosis 13 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). The variant is in trans with the other variant. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.78; 3Cnet: 0.65). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000993752 SCV001146943 uncertain significance Leber congenital amaurosis 13 2019-08-01 no assertion criteria provided clinical testing

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.