ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu)

dbSNP: rs1131691985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494586 SCV000583279 uncertain significance not provided 2019-04-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678310 SCV000804369 uncertain significance Schaaf-Yang syndrome 2017-08-29 criteria provided, single submitter provider interpretation This variant was identified in a 4 year old male with developmental delays, autistic behaviors, and a history of seizures. The p.Pro118Leu variant is absent from the gnomAD database. Computational models predict it to be benign. It was inherited from the patient's father who has a mild history of learning problems and depression. Clinical correlation with Schaaf-Yang syndrome was thought to be poor. The MAGEL2 gene is not constrained for missense variation and variants reported in association with Schaaf-Yang syndrome are typically truncating and de novo (Fountain, 2017). Since the this gene is maternally imprinted, testing of paternal grandparents was discussed but has not been completed.

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