ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4029G>A (p.Ser1343=)

gnomAD frequency: 0.00003  dbSNP: rs190354796
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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 RCV001298889 SCV001487960 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change affects codon 1343 of the C3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the C3 protein. This variant also falls at the last nucleotide of exon 31, which is part of the consensus splice site for this exon. This variant is present in population databases (rs190354796, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with C3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002458). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002493574 SCV002812917 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-09-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001298889 SCV005408676 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing

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