ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.1130-16A>G

dbSNP: rs2148751501
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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 RCV002020912 SCV002300043 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the SP110 gene. It does not directly change the encoded amino acid sequence of the SP110 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SP110-related conditions. This variant is not present in population databases (gnomAD no frequency).

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