Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000803576 | SCV000943454 | uncertain significance | Familial infantile myasthenia | 2022-03-18 | criteria provided, single submitter | clinical testing | This variant, c.2110_2112del, results in the deletion of 1 amino acid(s) of the CHAT protein (p.Ser705del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750942168, gnomAD 0.01%). This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 26789281). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Ser704del. ClinVar contains an entry for this variant (Variation ID: 648773). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Gene |
RCV002284439 | SCV002574627 | likely pathogenic | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | Identified in two siblings with clinical findings of congenital myasthenic syndrome who also harbored a second variant on the opposite allele (in trans) in published literature (Tan et al., 2016); reported as p.S704del due to use of alternate nomenclature; Not observed at a significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26789281) |