Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469372 | SCV000541233 | pathogenic | Multiple endocrine neoplasia, type 1 | 2016-11-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 116 (p.Glu116*) of the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with multiple endocrine neoplasia type 1 (PMID: 17235589). For these reasons, this variant has been classified as Pathogenic. |