Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000486523 | SCV000594091 | uncertain significance | not specified | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000555690 | SCV000634136 | likely benign | Familial infantile myasthenia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | 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]. |
Ambry Genetics | RCV002526613 | SCV003707165 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.665G>C (p.R222P) alteration is located in exon 4 (coding exon 4) of the CHAT gene. This alteration results from a G to C substitution at nucleotide position 665, causing the arginine (R) at amino acid position 222 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000555690 | SCV003833230 | uncertain significance | Familial infantile myasthenia | 2023-12-20 | criteria provided, single submitter | clinical testing |