ClinVar Miner

Submissions for variant NM_001378156.1(C1QB):c.91G>A (p.Gly31Arg)

gnomAD frequency: 0.00001  dbSNP: rs764348361
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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 RCV001955775 SCV002222538 uncertain significance not provided 2024-08-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 33 of the C1QB protein (p.Gly33Arg). This variant is present in population databases (rs764348361, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with C1QB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1443928). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001955775 SCV005410400 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006288 SCV005639897 uncertain significance C1Q deficiency 2 2024-03-25 criteria provided, single submitter clinical testing

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