ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)

gnomAD frequency: 0.00001  dbSNP: rs541041911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201711 SCV000256270 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research
Invitae RCV001853231 SCV002273846 likely pathogenic Joubert syndrome 2021-11-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 659 of the AHI1 protein (p.Asp659Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217544). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AHI1 protein function. 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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