ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) (rs199605221)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725878 SCV000340204 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764076 SCV000895031 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000725878 SCV000516308 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing The E317A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E317A variant is observed in 108/125,634 (0.09%) alleles from individuals of European background (Lek et al., 2016). The E317A variant is also observed in the homozygous state in a clinically unaffected relative of an individual referred for genetic testing at GeneDx. The E317A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.