Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000161928 | SCV000211912 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2019-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 366 of the MEN1 protein (p.Glu366Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs149383809, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individuals affected with multiple endocrine neoplasia type 1 (PMID: 16563611). ClinVar contains an entry for this variant (Variation ID: 183065). Experimental studies have shown that this missense change does not affect protein stability, however, the impact of this change on protein function was not assessed (PMID: 21819486). 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. |
| Counsyl | RCV000161928 | SCV000488100 | uncertain significance | Multiple endocrine neoplasia, type 1 | 2015-12-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000567306 | SCV000673638 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-03 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence |