ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.3745C>T (p.Arg1249Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003426483 SCV004129350 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing MAGEL2: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003426483 SCV004536411 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1249 of the MAGEL2 protein (p.Arg1249Cys). This variant is present in population databases (rs769676927, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MAGEL2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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