ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter)

dbSNP: rs200934080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479226 SCV000567010 pathogenic not provided 2015-07-14 criteria provided, single submitter clinical testing The W37X variant in the MAGT1 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. TheW37X variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret W37X as a pathogenic variant.
OMIM RCV000850121 SCV000992285 pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2019-08-26 no assertion criteria provided literature only

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