ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)

gnomAD frequency: 0.00001  dbSNP: rs387907003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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

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