ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.669G>A (p.Val223=)

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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 RCV002886258 SCV003245958 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-08-21 criteria provided, single submitter clinical testing This sequence change affects codon 223 of the SP110 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SP110 protein. This variant is present in population databases (rs376677600, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SP110-related conditions. 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.
PreventionGenetics, part of Exact Sciences RCV003926463 SCV004751848 likely benign SP110-related disorder 2019-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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