ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.740G>A (p.Gly247Asp)

gnomAD frequency: 0.00001  dbSNP: rs900156609
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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 RCV001953935 SCV002242380 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 247 of the SP110 protein (p.Gly247Asp). 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: "Probably Damaging"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1461102). This variant has not been reported in the literature in individuals affected with SP110-related conditions. This variant is not present in population databases (gnomAD no frequency).

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