ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1723T>C (p.Ser575Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004769021 SCV005376991 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-silico analysis is inconclusive as to whether the variant impacts protein structure/function. In the absence of functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge

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