ClinVar Miner

Submissions for variant NM_001770.6(CD19):c.178C>T (p.Pro60Ser) (rs1010611591)

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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 RCV001027775 SCV001190379 uncertain significance Common variable immunodeficiency 3 2019-03-25 criteria provided, single submitter clinical testing CD19 NM_001770.5 exon 2 p.Pro60Ser (c.178C>T): This variant has not been reported in the literature and is not present in large control databases. This variant amino acid Serine (Ser) is present in >5 species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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