ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.202C>T (p.Arg68Cys)

dbSNP: rs782657641
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340090 SCV001533887 uncertain significance Agammaglobulinemia 3, autosomal recessive 2021-04-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CD79A-related conditions. This variant is present in population databases (rs782657641, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 68 of the CD79A protein (p.Arg68Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine.

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