Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV002286396 | SCV002576495 | pathogenic | Persistent Mullerian duct syndrome | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002512931 | SCV003257616 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects AMHR2 function (PMID: 19457927, 31291191). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 8627). This variant is also known as ∆27 bp, ∆6331- 6357, and del6331–6357. This variant has been observed in individuals with AMHR2-related conditions (PMID: 8872466). This variant is present in population databases (rs764761319, gnomAD 0.09%). This variant, c.1332_1358del, results in the deletion of 9 amino acid(s) of the AMHR2 protein (p.Gly445_Leu453del), but otherwise preserves the integrity of the reading frame. |
OMIM | RCV000009159 | SCV000029376 | pathogenic | Persistent mullerian duct syndrome, type II | 2009-08-15 | no assertion criteria provided | literature only |