Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001297237 | SCV001486244 | uncertain significance | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1001015). This variant has not been reported in the literature in individuals affected with NEUROD1-related conditions. This variant is present in population databases (rs201174472, gnomAD 0.008%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 206 of the NEUROD1 protein (p.His206Asn). |
| Fulgent Genetics, |
RCV002486136 | SCV002789046 | uncertain significance | Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus | 2022-05-06 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001297237 | SCV003799334 | uncertain significance | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | The NEUROD1 c.616C>A; p.His206Asn variant (rs201174472), to our knowledge, is not reported in the medical literature, but is reported in ClinVar (Variation ID: 1001015). This variant is found in the general population with an overall allele frequency of 0.004% (10/282032 alleles) in the Genome Aggregation Database. The histidine at codon 206 is highly conserved, but computational analyses predict that this variant is neutral (REVEL: 0.133). Due to limited information, the clinical significance of the p.His206Asn variant is uncertain at this time. |