VariantPulseEvidence monitor liveADr. A. Kassim, open settings
VariantPulseRegional evidence reaches a different conclusion from the global consensus.
Uncertain significance
As reported
Benign
Multiple submitters, no conflicts
Synthetic record. No identifiers in this workspace correspond to a real person.
Reported in a neonatal hyperekplexia work-up. Classified as uncertain pending segregation data.
Read from ClinVar at the last evidence sync.
Global and regional evidence disagree on GLRA1 c.1214G>A. The global consensus is benign, drawn from 4 submissions. The regional index asserts likely pathogenic on 9 observations across a cohort of 4,120. One source places this variant in the clinically actionable band and the other does not, which is the form of disagreement most likely to change a care decision. One record on file carries this variant and has not yet been reassessed.
Composed from the structured fields of the records cited on this page. Requires clinical verification before it informs any decision.
Global
Read from ClinVar, which aggregates submissions dominated by European-ancestry cohorts.
Regional
Modelled regional aggregation maintained inside this workspace.
VariantPulse analysis
One source places this variant in the clinically actionable band and the other does not. Observed in nine regional probands with a consistent neonatal hyperekplexia phenotype, several from consanguineous families where the change segregated with disease. Published work reports that GLRA1 genotype in hyperekplexia tracks with ethnicity, which is the mechanism by which a globally benign reading and a regional pathogenic reading can both be internally consistent.
VariantPulse recommends manual review due to conflicting interpretation across evidence sources. It does not rank one source above the other.
GLRA1 c.1214G>A — the DNA is unchanged. The evidence around it is not.