ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.229A>G (p.Thr77Ala)

dbSNP: rs558131794
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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 RCV001345326 SCV001539433 uncertain significance Familial aplasia of the vermis 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 77 of the AHI1 protein (p.Thr77Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs558131794, ExAC 0.01%). 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.

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