ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.828G>A (p.Trp276Ter)

dbSNP: rs1571617647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768927 SCV004641331 pathogenic not provided 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp276*) in the CD46 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD46 are known to be pathogenic (PMID: 16621965, 23431077). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of atypical hemolytic uremic syndrome (PMID: 32424742). ClinVar contains an entry for this variant (Variation ID: 829863). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029803 SCV001192583 pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2019-06-05 no assertion criteria provided clinical testing

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