ClinVar Miner

Submissions for variant NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys)

gnomAD frequency: 0.00006  dbSNP: rs199660374
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
Counsyl RCV000666625 SCV000790946 likely pathogenic Deficiency of butyrylcholinesterase 2017-04-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469241 SCV002766313 uncertain significance not specified 2022-11-15 criteria provided, single submitter clinical testing Variant summary: BCHE c.1627C>T (p.Arg543Cys) results in a non-conservative amino acid change located in the Carboxylesterase, type B domain (IPR002018) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 250836 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1627C>T has been reported in the literature as a "silent" variant in compound heterozygous genotype in individuals affected with Deficiency Of Butyrylcholine Esterase (example, Maekawa_1995, Asanuma_1999, Lando_2003). These report(s) do not provide unequivocal conclusions about association of the variant with Deficiency Of Butyrylcholine Esterase. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as 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.