ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala)

dbSNP: rs376705634
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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 RCV001991060 SCV002265550 uncertain significance Familial aplasia of the vermis 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 874 of the AHI1 protein (p.Thr874Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). 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 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 RCV002484912 SCV002796433 uncertain significance Joubert syndrome 3 2022-02-09 criteria provided, single submitter clinical testing

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