ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.205C>T (p.Arg69Ter)

gnomAD frequency: 0.00001  dbSNP: rs377549148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390253 SCV001591929 pathogenic not provided 2022-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the C1QC protein in which other variant(s) (p.Gly76Arg) have been observed in individuals with C1QC-related conditions (PMID: 20635792). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 17070). This variant is also known as p.Arg41*. This premature translational stop signal has been observed in individuals with C1q deficiency (PMID: 8630118, 21654842). This variant is present in population databases (rs377549148, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg69*) in the C1QC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 177 amino acid(s) of the C1QC protein.
OMIM RCV000018599 SCV000038882 pathogenic C1Q deficiency 1996-04-01 no assertion criteria provided literature only

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