ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.1115G>A (p.Arg372Gln)

gnomAD frequency: 0.00005  dbSNP: rs201394862
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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 RCV001363195 SCV001559296 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 372 of the SP110 protein (p.Arg372Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs201394862, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SP110-related conditions. 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. 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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