ClinVar Miner

Submissions for variant NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)

gnomAD frequency: 0.00004  dbSNP: rs538881762
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
Mendelics RCV002247628 SCV002516072 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000203554 SCV004047819 uncertain significance Tremor, hereditary essential, 5 criteria provided, single submitter clinical testing The missense variant c.3412G>A (p.Val1138Met) in TENM4 gene has been reported in heterozygous state in individuals affected with essential tremor (Hor, Hyun et al., 2015). Experimental studies have shown that this missense impact the function of the protein and exert a likely dominant-negative effect (Hor, Hyun et al., 2015). This variant has allele frequency 0.04% in the gnomAD and novel in 1000 genome database. This variant has been reported to the ClinVar database as Pathogenic. The amino acid Val at position 1138 is changed to a Met changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Val1138Met in TENM4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of uncertain significance.
OMIM RCV000203554 SCV000258617 pathogenic Tremor, hereditary essential, 5 2015-10-15 no assertion criteria provided literature only

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.