ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.338A>G (p.Gln113Arg)

gnomAD frequency: 0.00001  dbSNP: rs577324370
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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 RCV001365701 SCV001561978 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2020-06-22 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SP110-related conditions. This variant is present in population databases (rs577324370, ExAC 0.02%). This sequence change replaces glutamine with arginine at codon 113 of the SP110 protein (p.Gln113Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine.

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