ClinVar Miner

Submissions for variant NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg)

dbSNP: rs766698870
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
Illumina Laboratory Services, Illumina RCV001270899 SCV001451680 uncertain significance Congenital nonprogressive myopathy with Moebius and Robin sequences 2019-06-04 criteria provided, single submitter clinical testing The MYMK c.481G>C (p.Gly161Arg) variant is a missense variant. A literature search was performed for the gene, cDNA change and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000018 in the Total population from the Genome Aggregation Database in a region of good sequencing coverage. There is no functional evidence for this variant, but it is located in the transmembrane domain 6 (Di Gioia et al. 2017). Based on limited evidence, the p.Gly161Arg variant is classified as a variant of uncertain significance for Carey-Fineman-Ziter syndrome.

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.