ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)

gnomAD frequency: 0.00003  dbSNP: rs202059535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244792 SCV001418036 likely benign Familial infantile myasthenia 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001799750 SCV002043834 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 12548525, 21786365)

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