Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000523071 | SCV000618594 | uncertain significance | not provided | 2022-11-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV001058674 | SCV001223261 | uncertain significance | Familial aplasia of the vermis | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 485 of the AHI1 protein (p.Asn485Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 450058). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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, |
RCV002490908 | SCV002794125 | uncertain significance | Joubert syndrome 3 | 2022-01-10 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003243167 | SCV003964532 | uncertain significance | Inborn genetic diseases | 2023-03-21 | criteria provided, single submitter | clinical testing | The c.1454A>G (p.N485S) alteration is located in exon 11 (coding exon 9) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 1454, causing the asparagine (N) at amino acid position 485 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |