ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.257G>A (p.Trp86Ter)

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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 RCV002834045 SCV003218190 pathogenic not provided 2022-06-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CD46-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp86*) 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).
Mayo Clinic Laboratories, Mayo Clinic RCV002834045 SCV005414150 likely pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing PM2, PVS1

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