ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.431C>A (p.Pro144His)

gnomAD frequency: 0.00011  dbSNP: rs151199258
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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 RCV001046339 SCV001210236 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 144 of the SP110 protein (p.Pro144His). This variant is present in population databases (rs151199258, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with SP110-related conditions. ClinVar contains an entry for this variant (Variation ID: 843665). 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 histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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