ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup)

dbSNP: rs768384701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560757 SCV001783228 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing In-frame DUPLICATION of 7 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843593 SCV002103091 uncertain significance Schaaf-Yang syndrome 2021-09-06 criteria provided, single submitter clinical testing PM4
PreventionGenetics, part of Exact Sciences RCV004749713 SCV005356865 uncertain significance MAGEL2-related disorder 2023-11-06 no assertion criteria provided clinical testing The MAGEL2 c.2212_2232dup21 variant is predicted to result in an in-frame duplication (p.Ser738_Ala744dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-23890657-G-GGGCCCTGCGCTCCTTCGAGGA). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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