Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002513203 | SCV003440022 | pathogenic | Familial aplasia of the vermis | 2023-02-24 | criteria provided, single submitter | clinical testing | 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. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 495 of the AHI1 protein (p.Arg495His). This variant is present in population databases (rs387907003, gnomAD 0.007%). This missense change has been observed in individual(s) with Joubert syndrome (PMID: 21937992; Invitae). ClinVar contains an entry for this variant (Variation ID: 30761). |
OMIM | RCV000023740 | SCV000045031 | pathogenic | Joubert syndrome 3 | 2011-09-21 | no assertion criteria provided | literature only |