ClinVar Miner

Submissions for variant NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)

dbSNP: rs398122418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000074487 SCV000245504 pathogenic Schaaf-Yang syndrome 2013-10-04 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 19-year-old male with intellectual disability, delayed puberty, autism, hearing loss, hypertonia, epilepsy, dysmorphic features, short stature, microcephaly
GeneDx RCV000285006 SCV000329944 pathogenic not provided 2023-04-20 criteria provided, single submitter clinical testing Please note, this variant is referred to as p.Gln1024* in this publication (Schaaf et al., 2013), which may be a typographic error; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation, as the last 208 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 24076603, 26633545, 24661356)
OMIM RCV000074487 SCV000108572 pathogenic Schaaf-Yang syndrome 2013-11-01 no assertion criteria provided literature only

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