ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)

gnomAD frequency: 0.00004  dbSNP: rs752596663
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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 RCV003546567 SCV004270592 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 164 of the C1QC protein (p.Gly164Ser). This variant is present in population databases (rs752596663, gnomAD 0.004%). This missense change has been observed in individual(s) with C1QC-related conditions (PMID: 24157463). ClinVar contains an entry for this variant (Variation ID: 440743). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
OMIM RCV003221355 SCV000606735 pathogenic C1Q deficiency 3 2023-07-31 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000508986 SCV001132833 pathogenic C1Q deficiency 2019-01-29 no assertion criteria provided clinical testing

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