Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000487200 | SCV000566016 | likely pathogenic | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | The c.518dupG variant in the CHRNA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.518dupG variant causes a frameshift starting with codon Serine 174, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 194 of the new reading frame, denoted p.Ser174LeufsX194. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.518dupG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.518dupG as a likely pathogenic variant. |
| Labcorp Genetics |
RCV001383195 | SCV001582271 | pathogenic | Lethal multiple pterygium syndrome | 2020-09-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHRNA1 are known to be pathogenic (PMID: 14719537, 15907919, 18252226). This variant has not been reported in the literature in individuals with CHRNA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 418733). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser174Leufs*194) in the CHRNA1 gene. It is expected to result in an absent or disrupted protein product. |
| Fulgent Genetics, |
RCV002496853 | SCV002813251 | likely pathogenic | Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A | 2021-09-28 | criteria provided, single submitter | clinical testing |