ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) (rs8178989)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711173 SCV000571157 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The R222P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observed with any significant frequency in the 1000 Genomes Project. The R222P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with CHAT-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Genetic Services Laboratory, University of Chicago RCV000486523 SCV000594091 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV000555690 SCV000634136 likely benign Familial infantile myasthenia 2020-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711173 SCV000841503 uncertain significance not provided 2018-02-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000555690 SCV001529244 uncertain significance Familial infantile myasthenia 2018-11-12 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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