ClinVar Miner

Submissions for variant NM_172351.3(CD46):c.604C>T (p.Leu202Phe)

dbSNP: rs750324925
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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 RCV001507530 SCV001713130 uncertain significance not provided 2021-03-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702387 SCV005204114 uncertain significance not specified 2024-06-21 criteria provided, single submitter clinical testing Variant summary: CD46 c.604C>T (p.Leu202Phe) results in a non-conservative amino acid change located in the Sushi/SCR/CCP domain (IPR000436) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251462 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.604C>T has been reported in the literature in a setting of whole exome sequencing in at least one individual affected with Atypical Hemolytic Uremic Syndrome (e.g. Barbour_2021). These data do not provide sufficient evidence to allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 34169200). ClinVar contains an entry for this variant (Variation ID: 599060). Based on the evidence outlined above, the variant was classified as uncertain significance.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735651 SCV000863791 pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 2019-04-26 no assertion criteria provided clinical testing

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