ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.469T>C (p.Cys157Arg)

dbSNP: rs2102552865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507528 SCV001713128 likely pathogenic not provided 2019-10-06 criteria provided, single submitter clinical testing PS4_moderate, PM2, PM5, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001507528 SCV005834774 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 157 of the CD46 protein (p.Cys157Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of atypical hemolytic uremic syndrome (PMID: 27268256). ClinVar contains an entry for this variant (Variation ID: 1162903). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CD46 protein function with a positive predictive value of 80%. 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.

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