ClinVar Miner

Submissions for variant NM_001783.4(CD79A):c.182A>T (p.Asn61Ile)

dbSNP: rs2074205317
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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 RCV001313454 SCV001503951 uncertain significance Agammaglobulinemia 3, autosomal recessive 2020-02-17 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CD79A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with isoleucine at codon 61 of the CD79A protein (p.Asn61Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. 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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