ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val)

gnomAD frequency: 0.00007  dbSNP: rs373971733
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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 RCV001370358 SCV001566829 uncertain significance Familial aplasia of the vermis 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 851 of the AHI1 protein (p.Leu851Val). This variant is present in population databases (rs373971733, gnomAD 0.02%). 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: 1060868). 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. 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 RCV002488161 SCV002782462 uncertain significance Joubert syndrome 3 2022-04-22 criteria provided, single submitter clinical testing

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