ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.3473C>A (p.Thr1158Asn)

gnomAD frequency: 0.00002  dbSNP: rs903212062
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557320 SCV001779064 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016)

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