ClinVar Miner

Submissions for variant NM_001940.4(ATN1):c.3155A>C (p.His1052Pro)

dbSNP: rs2138219892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Children's Hospital, SCHN RCV001594416 SCV001483502 pathogenic Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 2021-03-04 criteria provided, single submitter clinical testing The p.His1052Pro variant was identified de novo in a patient with characteristic features of CHEDDA syndrome . The variant is predicted to disrupt the critical HX domain where all other patients with CHEDDA syndrome have their variants.
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002279971 SCV002568841 likely pathogenic not provided criteria provided, single submitter clinical testing
Solve-RD Consortium RCV001594416 SCV005091256 likely pathogenic Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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