Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001900574 | SCV002138525 | uncertain significance | Imerslund-Grasbeck syndrome | 2024-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 352 of the AMN protein (p.His352Gln). This variant is present in population databases (rs773203683, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with AMN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1374284). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt AMN protein function with a negative predictive value of 80%. 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, |
RCV002482595 | SCV002775779 | uncertain significance | Imerslund-Grasbeck syndrome type 2 | 2022-05-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004631777 | SCV005137795 | uncertain significance | Inborn genetic diseases | 2024-05-28 | criteria provided, single submitter | clinical testing | The c.1056C>A (p.H352Q) alteration is located in exon 10 (coding exon 10) of the AMN gene. This alteration results from a C to A substitution at nucleotide position 1056, causing the histidine (H) at amino acid position 352 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |