ClinVar Miner

Submissions for variant NM_017999.5(RNF31):c.1737+3A>G

dbSNP: rs2139081076
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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 RCV001882258 SCV002163000 uncertain significance not provided 2021-05-18 criteria provided, single submitter clinical testing 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. This sequence change falls in intron 9 of the RNF31 gene. It does not directly change the encoded amino acid sequence of the RNF31 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with common variable immune deficiency (PMID: 30936877). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with skipping of exon 9 but is expected to preserve the integrity of the reading frame (PMID: 30936877).
OMIM RCV003444156 SCV004171229 pathogenic Immunodeficiency 115 with autoinflammation 2023-11-28 no assertion criteria provided literature only

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