ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1402G>A (p.Gly468Arg)

dbSNP: rs148820222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001353350 SCV001548500 uncertain significance Atypical hemolytic-uremic syndrome with C3 anomaly 2021-03-30 criteria provided, single submitter clinical testing C3 c.1402G>A (rs148820222) is rare (<0.1%) in a large population dataset (gnomAD: 2/282848 total alleles; 0.0007%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging and the glycine residue at this position is evolutionarily conserved across most species assessed. We consider the clinical significance of C3 c.1402G>A to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001369008 SCV001565434 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1048763). This variant has not been reported in the literature in individuals affected with C3-related conditions. This variant is present in population databases (rs148820222, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 468 of the C3 protein (p.Gly468Arg).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001353350 SCV001984001 uncertain significance Atypical hemolytic-uremic syndrome with C3 anomaly 2020-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486468 SCV002791733 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-04-27 criteria provided, single submitter clinical testing

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