ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.175C>T (p.Arg59Ter)

gnomAD frequency: 0.00001  dbSNP: rs121909590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508038 SCV001713939 pathogenic not provided 2022-01-27 criteria provided, single submitter clinical testing PP1, PS3_moderate, PS4_moderate, PVS1
Labcorp Genetics (formerly Invitae), Labcorp RCV001508038 SCV003523375 pathogenic not provided 2022-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17048). This variant is also known as R25Stop. This premature translational stop signal has been observed in individual(s) with hemolytic uremic syndrome (PMID: 16621965, 23780777, 34169201). This variant is present in population databases (rs121909590, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg59*) 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).
OMIM RCV000018576 SCV000038859 risk factor Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2006-08-15 no assertion criteria provided literature only

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