ClinVar Miner

Submissions for variant NM_001735.3(C5):c.2059+16T>A

gnomAD frequency: 0.00171  dbSNP: rs199849879
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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 RCV002155992 SCV002466174 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505834 SCV002806547 likely benign Complement component 5 deficiency; Eculizumab, poor response to 2021-08-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782897 SCV005394625 benign not specified 2024-09-25 criteria provided, single submitter clinical testing Variant summary: C5 c.2059+16T>A alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00042 in 249638 control chromosomes. The observed variant frequency is approximately 3.76 fold of the estimated maximal expected allele frequency for a pathogenic variant in C5 causing C5 Deficiency phenotype (0.00011). To our knowledge, no occurrence of c.2059+16T>A in individuals affected with C5 Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1652212). Based on the evidence outlined above, the variant was classified as benign.

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