ClinVar Miner

Submissions for variant NM_001374259.2(IL12RB2):c.919G>A (p.Asp307Asn)

gnomAD frequency: 0.00041  dbSNP: rs147156135
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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 RCV001875051 SCV002145267 uncertain significance not provided 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 307 of the IL12RB2 protein (p.Asp307Asn). This variant is present in population databases (rs147156135, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with IL12RB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373147). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004040583 SCV004886401 uncertain significance not specified 2023-12-16 criteria provided, single submitter clinical testing The c.919G>A (p.D307N) alteration is located in exon 7 (coding exon 6) of the IL12RB2 gene. This alteration results from a G to A substitution at nucleotide position 919, causing the aspartic acid (D) at amino acid position 307 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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