Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kids Neuroscience Centre, |
RCV001726494 | SCV001571487 | likely pathogenic | Joubert syndrome 3 | criteria provided, single submitter | clinical testing | mRNA studies confirm the heterozygous c.2492+5G>A variant induces abnormal splicing of AHI1 transcripts. splicing outcomes induce a premature termination codon and are unlikely to be translated into functional protein. The heterozygous c.1051C>T nonsense variant has been previously reported as pathogenic in ClinVar. Hence, the collective data are consistent with likely pathogenicity of the AHI1 c.2492+5G>A variant. Compound heterozygous variants in AHI1 are consistent with autosomal recessive Joubert syndrome. |