ClinVar Miner

Submissions for variant NM_001770.6(CD19):c.706G>C (p.Ala236Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720639 SCV005329392 uncertain significance Immunodeficiency, common variable, 3 2023-05-20 criteria provided, single submitter clinical testing The missense c.706G>C (p.Ala236Pro) variant in the CD19 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes and novel in 1000 Genomes. The amino acid Alanine at position 236 is changed to a Proline changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict conflicting damaging effect on protein structure and function for this variant. The amino acid change p.Ala236Pro in CD19 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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