ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2492+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Neuroscience Centre, Sydney Children's Hospitals Network 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.

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