ClinVar Miner

Submissions for variant NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) (rs760485585)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671148 SCV000796098 likely pathogenic Deficiency of butyrylcholine esterase 2017-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000671148 SCV000915034 uncertain significance Deficiency of butyrylcholine esterase 2017-04-28 criteria provided, single submitter clinical testing The BCHE c.1584T>A (p.Tyr528Ter) stop-gained variant, also referred to as BCHE*500STOP, has been reported in a compound heterozygous state with a frameshift variant in one individual who was described as having sensitivity to succinylcholine and showed no BCHE protein activity in a plasma sample (Primo-Parmo et al. 1996). Control data are unavailable for this variant, which is reported at a frequency of 0.00018 in the Latino population of the Exome Aggregation Consortium, but this is based on two alleles so the variant is presumed to be rare. Due to the potential impact of stop-gained variants and the evidence from the literature, the p.Tyr528Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for butyrylcholinesterase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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