ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.224C>T (p.Thr75Met)

gnomAD frequency: 0.00029  dbSNP: rs199967393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035807 SCV001199144 uncertain significance Agammaglobulinemia 3, autosomal recessive 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 75 of the CD79A protein (p.Thr75Met). This variant is present in population databases (rs199967393, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CD79A-related conditions. ClinVar contains an entry for this variant (Variation ID: 835007). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001035807 SCV001468481 uncertain significance Agammaglobulinemia 3, autosomal recessive 2021-03-30 criteria provided, single submitter clinical testing CD79A NM_001783.3 exon 2 p.Thr75Met (c.224C>T): This variant has not been reported in the literature but is present in 0.09% (30/30616) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-42383204-C-T?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:835007). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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