ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.401G>T (p.Cys134Phe)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara RCV004698778 SCV005200100 likely pathogenic Retinitis pigmentosa 12 2024-07-29 criteria provided, single submitter research This variant is not present in the healthy population databases (gnomAD v4.1.0). The in silico predictions strongly supports the pathogenicity of this missense variant (REVEL score = 0.966 > 0.932). The variant is homozygous in our patient with retinitis pigmentosa. Therefore, the variant was classified as likely pathogenic, according to ACMG 2015 and ClinGen criteria. Criteria for classification: PM2_Supporting, PP3_Strong, PM3_Supporting

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.