ClinVar Miner

Submissions for variant NM_001735.3(C5):c.1816G>A (p.Asp606Asn)

gnomAD frequency: 0.00004  dbSNP: rs775286780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041371 SCV002114208 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 606 of the C5 protein (p.Asp606Asn). This variant is present in population databases (rs775286780, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with C5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1346229). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt C5 protein function with a positive predictive value of 80%. 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 RCV002489912 SCV002786993 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2022-03-05 criteria provided, single submitter clinical testing

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