ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) (rs78437096)

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
Athena Diagnostics Inc RCV000516815 SCV000614781 benign not specified 2017-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000766758 SCV000617298 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing The V692G variant in the PRKCG gene has been reported previously in the heterozygous state in two individuals from the same family with autosomal dominant spinocerebellar ataxia 14 (Klebe et al., 2005). The V692G variant is observed in 17/125754 (0.0135%) alleles from individuals of European (non-Finnish) background in large population cohorts (Lek et al., 2016). The V692G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V692G as a variant of uncertain significance.
GeneReviews RCV000034972 SCV000058597 pathologic Spinocerebellar ataxia type 14 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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.