ClinVar Miner

Submissions for variant NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)

dbSNP: rs764761319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV002286396 SCV002576495 pathogenic Persistent Mullerian duct syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512931 SCV003257616 pathogenic not provided 2024-05-28 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs764761319, gnomAD 0.09%). This variant has been observed in individuals with AMHR2-related conditions (PMID: 8872466). This variant is also known as ∆27 bp, ∆6331- 6357, and del6331–6357. ClinVar contains an entry for this variant (Variation ID: 8627). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects AMHR2 function (PMID: 19457927, 31291191). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002286396 SCV005636866 pathogenic Persistent Mullerian duct syndrome 2024-06-09 criteria provided, single submitter clinical testing
OMIM RCV000009159 SCV000029376 pathogenic Persistent mullerian duct syndrome, type II 2009-08-15 no assertion criteria provided literature only

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