ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) (rs372659908)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255574 SCV000322104 pathogenic not provided 2018-10-02 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the AHI1 gene. The R738X variant has been reported previously in multiple individuals with JSRD who had a second AHI1 variant on the opposite allele (in trans) in published literature (Parisi et al., 2006; Valente et al., 2006; Bachmann-Gagescu et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R738X as a pathogenic variant.
UW Hindbrain Malformation Research Program,University of Washington RCV000201604 SCV000256249 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research

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