ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)

gnomAD frequency: 0.00001  dbSNP: rs776053386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756394 SCV001985130 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882817 SCV002115927 uncertain significance Familial aplasia of the vermis 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 111 of the AHI1 protein (p.Pro111Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs776053386, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. 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 RCV002488507 SCV002786331 uncertain significance Joubert syndrome 3 2021-10-20 criteria provided, single submitter clinical testing

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