ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp)

gnomAD frequency: 0.00001  dbSNP: rs1362092820
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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 RCV001957108 SCV002203340 uncertain significance Familial aplasia of the vermis 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 811 of the AHI1 protein (p.Asn811Asp). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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.
Fulgent Genetics, Fulgent Genetics RCV002484580 SCV002789081 uncertain significance Joubert syndrome 3 2022-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044224 SCV004874108 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.2431A>G (p.N811D) alteration is located in exon 17 (coding exon 15) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 2431, causing the asparagine (N) at amino acid position 811 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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