ClinVar Miner

Submissions for variant NM_000240.3(MAOA):c.730G>A (p.Val244Ile) (rs1135401773)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496099 SCV000586717 likely pathogenic Brunner syndrome 2017-08-01 criteria provided, single submitter clinical testing Missense Variant in the MAOA gene identified in a male, 7 y with speech delay, moderate ID and behavioral anomalies. The healthy mother had a XI of 82%. The variant affects a highly conserved aminoacid which is located in close proximity to the other described missense variants affecting MAOA function.

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