ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.370C>T (p.Pro124Ser)

gnomAD frequency: 0.00006  dbSNP: rs1158665994
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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 RCV001040603 SCV001204187 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2022-07-24 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: "Possibly Damaging"; Align-GVGD: "Class C0". The serine 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: 838945). This variant has not been reported in the literature in individuals affected with SP110-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 124 of the SP110 protein (p.Pro124Ser).

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