ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) (rs1276908141)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534772 SCV000634564 likely pathogenic Joubert syndrome 2017-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 702 of the AHI1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AHI1 protein. This variant is not present in population databases (ExAC no frequency). This variant occurs with a pathogenic variant (p.Pro560Thrfs*5) in AHI1 in an individual with clinical features consistent with Joubert syndrome (Invitae). Family studies indicate these two variants are on opposite chromosomes (in trans), which suggests the c.2106G>A substitution may contribute to disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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