Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632129 | SCV000753233 | pathogenic | Multiple endocrine neoplasia, type 1 | 2023-10-03 | criteria provided, single submitter | clinical testing | This variant, c.776_781dup, results in the insertion of 2 amino acid(s) of the MEN1 protein (p.Leu259_Gln260dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of multiple endocrine neoplasia type 1 (PMID: 12417605; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 527275). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000632129 | SCV000038465 | pathogenic | Multiple endocrine neoplasia, type 1 | 2002-09-01 | no assertion criteria provided | literature only |