Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001928476 | SCV002183731 | uncertain significance | Familial aplasia of the vermis | 2022-09-06 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 317 of the AHI1 protein (p.Asp317Val). This variant is not present in population databases (gnomAD no frequency). 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: 1414009). 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. |
Ambry Genetics | RCV002556375 | SCV003660297 | uncertain significance | Inborn genetic diseases | 2022-12-12 | criteria provided, single submitter | clinical testing | The c.950A>T (p.D317V) alteration is located in exon 8 (coding exon 6) of the AHI1 gene. This alteration results from a A to T substitution at nucleotide position 950, causing the aspartic acid (D) at amino acid position 317 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |