Total submissions: 2
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, |
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. |