ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.198A>T (p.Lys66Asn)

gnomAD frequency: 0.00033  dbSNP: rs150429980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543667 SCV001762353 uncertain significance Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2021-07-27 criteria provided, single submitter clinical testing CD46 c.198A>G (rs150429980) is rare (<0.1%) in a large population dataset (gnomAD: 106/282834 total alleles; 0.04%; no homozygotes) and has not been reported in ClinVar. It has not been reported in the literature in individuals with atypical hemolytic anemia syndrome, to our knowledge. Of three bioinformatics tools queried, one predicts that the substitution would be damaging, while two predict that it would be tolerated. The lysine residue at this position is evolutionarily conserved across a subset of the mammalian species assessed. We consider the clinical significance of CD46 c.198A>G to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002071963 SCV002434904 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing

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