ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)

gnomAD frequency: 0.00005  dbSNP: rs200206736
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200330 SCV001371256 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001200330 SCV002247271 pathogenic not provided 2024-10-16 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 34 of the C1QC protein (p.Gly34Arg). This variant is present in population databases (rs200206736, gnomAD 0.03%). This missense change has been observed in individual(s) with classical pathway complement deficiencies (PMID: 7900940, 8630118, 28082982, 30008451, 31357913). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as p.Gly6Arg. ClinVar contains an entry for this variant (Variation ID: 17071). 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. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000018600 SCV002518619 pathogenic C1Q deficiency 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000018600 SCV000038883 pathogenic C1Q deficiency 1996-04-01 no assertion criteria provided literature only

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