ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.725C>T (p.Pro242Leu)

dbSNP: rs765229595
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036887 SCV001200274 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2019-12-16 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine 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 (rs765229595, ExAC 0.01%). This sequence change replaces proline with leucine at codon 242 of the SP110 protein (p.Pro242Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.