ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.59_60del (p.Glu20fs) (rs531450737)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697500 SCV000826115 uncertain significance Familial infantile myasthenia 2020-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu20Glyfs*60) in the CHAT gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CHAT-related disease. Loss-of-function variants in CHAT are known to be pathogenic (PMID: 12548525, 21786365, 23292760). However, this particular variant occurs in an alternatively spliced exon and may not result in loss of CHAT protein function (PMID: 7616604). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729219 SCV000856861 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000697500 SCV001521288 uncertain significance Familial infantile myasthenia 2019-04-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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