ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln)

gnomAD frequency: 0.00004  dbSNP: rs371242173
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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 RCV001917606 SCV002161289 uncertain significance Familial aplasia of the vermis 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1079 of the AHI1 protein (p.Arg1079Gln). This variant is present in population databases (rs371242173, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1390440). 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 not expected to disrupt AHI1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002478266 SCV002790231 uncertain significance Joubert syndrome 3 2021-11-22 criteria provided, single submitter clinical testing

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