Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001038143 | SCV001201596 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 836918). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 87 of the NEUROD1 protein (p.Lys87Arg). This variant is present in population databases (rs758515206, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NEUROD1-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 NEUROD1 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, |
RCV002489552 | SCV002788071 | uncertain significance | Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus | 2024-05-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV005372515 | SCV006040948 | uncertain significance | Inborn genetic diseases | 2025-01-28 | criteria provided, single submitter | clinical testing | The c.260A>G (p.K87R) alteration is located in exon 2 (coding exon 1) of the NEUROD1 gene. This alteration results from a A to G substitution at nucleotide position 260, causing the lysine (K) at amino acid position 87 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |