ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.840+1G>T

gnomAD frequency: 0.00001  dbSNP: rs746775306
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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 RCV001984861 SCV002211015 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the IFNAR2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs746775306, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with IFNAR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1435309). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243487 SCV002512262 uncertain significance Immunodeficiency 45 2022-02-17 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 moderate, PM2 moderate

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