ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) (rs587783013)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics - Radboudumc,Radboudumc RCV000678521 SCV000804593 pathogenic Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000144464 SCV000915147 likely pathogenic Joubert syndrome 3 2017-10-17 criteria provided, single submitter clinical testing The AHI1 c.2174G>A (p.Trp725Ter) stop-gained variant has been reported in at least four studies and is found in a compound heterozygous state in three individuals with Joubert syndrome and in one individual with non-syndromic retinitis pigmentosa (RP) (Seong et al. 2015; Bachmann-Gagescu et al. 2015; Enokizono et al. 2017, Nguyen et al. 2017). All three individuals with Joubert syndrome carried null variants on the second allele and the individual with RP carried a missense variant on the second allele. Authors suggest individuals with one mild and one severe AHI1 variant will have remnant Jouberin activity that is sufficient for ciliary function in all cells except retinal photoreceptor cells (Nguyen et al. 2017). Control data are unavailable for this variant, which is reported at a frequency of 0.000348 in the East Asian population of the Exome Aggregation Consortium. Based on the evidence and the potential impact of stop-gained variants, the p.Trp725Ter variant is classified as likely pathogenic for Joubert syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144464 SCV000189598 pathogenic Joubert syndrome 3 2014-09-18 no assertion criteria provided clinical testing
UW Hindbrain Malformation Research Program,University of Washington RCV000144464 SCV000256272 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research

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