ClinVar Miner

Submissions for variant NM_000574.5(CD55):c.148G>T (p.Glu50Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989924 SCV004806019 likely pathogenic Protein-losing enteropathy 2024-03-25 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003989924 SCV005073848 pathogenic Protein-losing enteropathy criteria provided, single submitter clinical testing The observed stop gained c.148G>T (p.Glu50Ter) variant in CD55 gene has been reported previously in individuals affected with CD55-related disorders (Storry and Lomas-Francis, 2021; Floch et al., 2022). The p.Glu50Ter variant has been reported with allele frequency of 0.001% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. This sequence change creates a premature translational stop signal (p.Glu50Ter) in the CD55 gene. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants in CD55 gene have been previously reported to be pathogenic (Dho et al., 2018). For these reasons, this variant has been classified as Pathogenic.

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