ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)

gnomAD frequency: 0.00109  dbSNP: rs188762916
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501872 SCV000595677 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198742 SCV001369737 benign Prader-Willi syndrome 2018-10-04 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
GeneDx RCV001729617 SCV001988825 benign not provided 2021-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001729617 SCV002563226 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MAGEL2: BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001729617 SCV003486534 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524224 SCV003684694 likely benign Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV001729617 SCV001978739 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729617 SCV001980271 likely benign not provided no assertion criteria provided clinical testing

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