ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.1984C>T (p.Arg662Ter)

gnomAD frequency: 0.00003  dbSNP: rs201059449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783789 SCV002023613 likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome 2020-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783789 SCV002309939 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2021-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg638*) in the SP110 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the SP110 protein. This variant is present in population databases (rs201059449, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with SP110-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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