ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.1368_1430del (p.Ala463_Pro483del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002836888 SCV003622337 uncertain significance Inborn genetic diseases 2022-06-06 criteria provided, single submitter clinical testing The c.1368_1430del63 (p.A463_P483del) alteration is located in exon 1 (coding exon 1) of the MAGEL2 gene. This alteration consists of an in-frame deletion of 63 nucleotides between nucleotide positions c.1368 and c.1430, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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