ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2734C>T (p.Pro912Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002800898 SCV003034933 uncertain significance Familial aplasia of the vermis 2022-01-21 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. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 912 of the AHI1 protein (p.Pro912Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. 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.

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