ClinVar Miner

Submissions for variant NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn)

gnomAD frequency: 0.00048  dbSNP: rs143240067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908124 SCV001052865 likely benign not provided 2024-05-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000908124 SCV001715643 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408068 SCV006070745 likely benign not specified 2025-03-03 criteria provided, single submitter clinical testing Variant summary: CFHR5 c.835T>A (p.Tyr279Asn) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 251288 control chromosomes, predominantly at a frequency of 0.0015 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database exceeds the estimated maximal expected allele frequency for a pathogenic variant in CFHR5 causing CFHR5 Deficiency phenotype. c.835T>A has been reported in the literature in individuals affected with CFHR5 Deficiency. These report(s) do not provide unequivocal conclusions about association of the variant with CFHR5 Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 732917). Based on the evidence outlined above, the variant was classified as likely benign.

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