ClinVar Miner

Submissions for variant NM_001278064.2(GRM1):c.1817T>C (p.Val606Ala)

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
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud RCV004794755 SCV005414489 uncertain significance Spinocerebellar ataxia 44 2024-11-18 criteria provided, single submitter clinical testing The variant NM_001278064.2:c.1817T>C results in the substitution of valine with alanine at position 606 in the protein. Both valine and alanine are non-polar, hydrophobic amino acids, and this substitution may not drastically alter the protein's function or stability. The variant has been classified as PM2 (absence or very low frequency in population databases). Based on this evidence, the variant is classified as of uncertain significance (VUS).

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.