ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)

gnomAD frequency: 0.00006  dbSNP: rs367640472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800062 SCV000939760 uncertain significance Familial aplasia of the vermis 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1069 of the AHI1 protein (p.Glu1069Gly). This variant is present in population databases (rs367640472, gnomAD 0.002%). 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: 645894). 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 with a positive predictive value of 95%. 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 RCV002507385 SCV002814895 uncertain significance Joubert syndrome 3 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537117 SCV003750676 uncertain significance Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing The c.3206A>G (p.E1069G) alteration is located in exon 24 (coding exon 22) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 3206, causing the glutamic acid (E) at amino acid position 1069 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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