ClinVar Miner

Submissions for variant NM_017872.5(THG1L):c.137C>A (p.Thr46Asn)

gnomAD frequency: 0.00001  dbSNP: rs746295635
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660503 SCV000782603 uncertain significance not provided 2017-03-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001264830 SCV001443029 uncertain significance Spinocerebellar ataxia, autosomal recessive 28 2020-03-01 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PM2,PM3_Supporting
GeneDx RCV000660503 SCV002027684 uncertain significance not provided 2021-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28097321)
Ambry Genetics RCV002530575 SCV003729341 uncertain significance Inborn genetic diseases 2021-05-20 criteria provided, single submitter clinical testing The c.137C>A (p.T46N) alteration is located in coding exon 1 of the THG1L gene. This alteration results from a C to A substitution at nucleotide position 137, causing the threonine (T) at amino acid position 46 to be replaced by an asparagine (N). Based on data from the Genome Aggregation Database (gnomAD), the THG1L c.137C>A alteration was observed in 0.006% (2/31406) of total alleles studied, with a frequency of 0.013% (2/15432) in the European (non-Finnish) subpopulation. This alteration has been observed homozygous in two first cousins from one family who presented with mild intellectual disability and ataxia (Reuter, 2017). This amino acid position is highly conserved in available vertebrate species. The p.T46N alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.