Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003062405 | SCV003440493 | pathogenic | Multiple endocrine neoplasia, type 1 | 2024-02-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp183*) in 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 (PMID: 12112656, 17853334). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple endocrine neoplasia type 1 (PMID: 9215690, 9671267, 30324798). ClinVar contains an entry for this variant (Variation ID: 2137148). For these reasons, this variant has been classified as Pathogenic. |