ClinVar Miner

Submissions for variant NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)

gnomAD frequency: 0.00001  dbSNP: rs115624085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490369 SCV000267224 likely pathogenic Deficiency of butyrylcholinesterase 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000490369 SCV000800500 uncertain significance Deficiency of butyrylcholinesterase 2017-02-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282044 SCV002570717 uncertain significance not specified 2022-07-17 criteria provided, single submitter clinical testing Variant summary: BCHE c.884A>G (p.Lys295Arg) results in a conservative amino acid change located in the Carboxylesterase, type B domain (IPR002018) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 249806 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in BCHE causing Deficiency Of Butyrylcholine Esterase (0.00011 vs 0.016), allowing no conclusion about variant significance. c.884A>G has been reported in the literature as a "silent allele" in individuals affected with Deficiency Of Butyrylcholine Esterase (example, Maekawa_1997 cited in Lockridge_2015, Souza_2005). 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. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely pathogenic, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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