ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.2117C>T (p.Thr706Met) (rs773722155)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768018 SCV000898810 uncertain significance Nephrotic syndrome type 15 2018-09-12 criteria provided, single submitter clinical testing MAGI2 NM_012301.3 exon 12 p.Thr706Met (c.2117C>T): This variant has not been reported in the literature but is present in 0.01% (6/33906) of Latino alleles in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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