ClinVar Miner

Submissions for variant NM_001735.3(C5):c.5011A>G (p.Ile1671Val)

gnomAD frequency: 0.00010  dbSNP: rs374914766
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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 RCV001955804 SCV002224119 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs374914766, gnomAD 0.008%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1671 of the C5 protein (p.Ile1671Val). 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: 1444040). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on C5 protein function. 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 RCV002479546 SCV002785731 uncertain significance Complement component 5 deficiency; Eculizumab, poor response to 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043668 SCV003696741 uncertain significance not specified 2021-11-16 criteria provided, single submitter clinical testing The c.5011A>G (p.I1671V) alteration is located in exon 41 (coding exon 41) of the C5 gene. This alteration results from a A to G substitution at nucleotide position 5011, causing the isoleucine (I) at amino acid position 1671 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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