ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002664378 SCV003194730 uncertain significance Schaaf-Yang syndrome 2022-12-22 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 1 of the MAGEL2 gene that results in the amino acid substitution of Lysine for Glutamine at codon 863 (p.Gln863Lys) was detected. This variant has not been reported in the 1000 genomes and gnomAD databases. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
New York Genome Center RCV002664378 SCV003925102 uncertain significance Schaaf-Yang syndrome 2022-04-15 criteria provided, single submitter clinical testing

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