ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.665A>G (p.Gln222Arg)

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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 RCV002794939 SCV003025074 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-03-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs374878527, gnomAD 0.003%). 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SP110-related conditions. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 222 of the SP110 protein (p.Gln222Arg).

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