Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001372322 | SCV001568951 | uncertain significance | Familial infantile myasthenia | 2020-04-08 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CHAT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 604 of the CHAT protein (p.Ile604Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. |
Ambry Genetics | RCV002550153 | SCV003589961 | uncertain significance | Inborn genetic diseases | 2021-10-26 | criteria provided, single submitter | clinical testing | The c.1811T>A (p.I604N) alteration is located in exon 13 (coding exon 13) of the CHAT gene. This alteration results from a T to A substitution at nucleotide position 1811, causing the isoleucine (I) at amino acid position 604 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001372322 | SCV003833234 | uncertain significance | Familial infantile myasthenia | 2019-09-28 | criteria provided, single submitter | clinical testing |