Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001384046 | SCV001583417 | pathogenic | Congenital myasthenic syndrome 4A | 2023-05-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071548). This variant is also known as c.1098insG. This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 14532324). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys387Glufs*10) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). |
Baylor Genetics | RCV001384046 | SCV004212600 | pathogenic | Congenital myasthenic syndrome 4A | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004590367 | SCV005078610 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 14532324) |