ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.341C>T (p.Ser114Leu)

gnomAD frequency: 0.00024  dbSNP: rs145895409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207083 SCV001378422 uncertain significance Agammaglobulinemia 3, autosomal recessive 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 114 of the CD79A protein (p.Ser114Leu). This variant is present in population databases (rs145895409, gnomAD 0.06%). 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: 937949). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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