Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409931 | SCV000485861 | likely pathogenic | Deficiency of butyrylcholinesterase | 2016-02-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000409931 | SCV003923042 | likely pathogenic | Deficiency of butyrylcholinesterase | 2023-03-28 | criteria provided, single submitter | clinical testing | Variant summary: BCHE c.495_498delAAGA (p.Arg166LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 250730 control chromosomes (gnomAD). To our knowledge, no occurrence of c.495_498delAAGA in individuals affected with Deficiency Of Butyrylcholine Esterase and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |