ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro) (rs374547688)

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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 RCV000768342 SCV000899033 uncertain significance Common variable immunodeficiency 2; Immunoglobulin A deficiency 2 2018-11-30 criteria provided, single submitter clinical testing TNFRSF13B NM_012452.2 exon 2 p.Ser49Pro (c.145T>C): This variant has not been reported in the literature but is present in 0.1% (58/34586) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-16855814-A-G). Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may not 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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