ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)

dbSNP: rs1863365049
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203117 SCV001374264 pathogenic Charcot-Marie-Tooth disease type 4 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTMR2 are known to be pathogenic (PMID: 10802647). This variant has not been reported in the literature in individuals with MTMR2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu531*) in the MTMR2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003163530 SCV003887523 pathogenic Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.1591G>T (p.E531*) alteration, located in exon 13 (coding exon 13) of the MTMR2 gene, consists of a G to T substitution at nucleotide position 1591. This changes the amino acid from a glutamic acid (E) to a stop codon at amino acid position 531. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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.