ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala)

gnomAD frequency: 0.00006  dbSNP: rs754609881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369192 SCV001565622 uncertain significance Familial aplasia of the vermis 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 78 of the AHI1 protein (p.Thr78Ala). This variant is present in population databases (rs754609881, gnomAD 0.04%). 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: 1059833). 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 RCV002488149 SCV002793943 uncertain significance Joubert syndrome 3 2022-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346531 SCV004060490 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.232A>G (p.T78A) alteration is located in exon 6 (coding exon 4) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 232, causing the threonine (T) at amino acid position 78 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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