ClinVar Miner

Submissions for variant NM_000055.4(BCHE):c.635C>T (p.Ala212Val) (rs114706984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412062 SCV000486272 likely pathogenic Deficiency of butyrylcholine esterase 2016-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000412062 SCV000916010 likely pathogenic Deficiency of butyrylcholine esterase 2017-09-07 criteria provided, single submitter clinical testing The BCHE c.635C>T (p.Ala212Val) missense variant, also referred to as p.Ala184Val, has been identified in at least four studies and seven individuals with low BChE activity, including in one in a homozygous state, in three in a compound heterozygous state, and in three in a heterozygous state (Greenberg et al. 1995; Levano et al. 2005; Mikami et al. 2008; Jasiecki et al. 2016). Two of the compound heterozygous individuals were found to have prolonged duration of succinylcholine action during routine anesthetic administration (Greenberg et al. 1995; Levano et al. 2005). The p.Ala212Val variant is reported at a frequency of 0.00419 in the European-American population of the Exome Sequencing Project. Based on the evidence, the p.Ala212Val is classified as likely pathogenic for butyrylcholinesterase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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