ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.653T>A (p.Ile218Lys)

gnomAD frequency: 0.00002  dbSNP: rs781969358
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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 RCV001362520 SCV001558541 uncertain significance Agammaglobulinemia 3, autosomal recessive 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 218 of the CD79A protein (p.Ile218Lys). This variant is present in population databases (rs781969358, gnomAD 0.03%). 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: 1054078). 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.
Ambry Genetics RCV004036839 SCV004070492 uncertain significance not specified 2023-08-08 criteria provided, single submitter clinical testing The c.653T>A (p.I218K) alteration is located in exon 5 (coding exon 5) of the CD79A gene. This alteration results from a T to A substitution at nucleotide position 653, causing the isoleucine (I) at amino acid position 218 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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