ClinVar Miner

Submissions for variant NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val) (rs754658198)

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000999645 SCV001134997 uncertain significance NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 2019-11-14 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 1 of the ZSWIM6 gene that results in the amino acid substitution of Valine for Glycine at codon 136 was detected. The observed variant has not been reported in the 1000 genomes and has a minor allele frequency of 0.009% in the ExAC database. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is not conserved across species. In summary, Gly136Val variant meets our criteria to be classified as a variant of uncertain significance.

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.