ClinVar Miner

Submissions for variant NM_015991.4(C1QA):c.622C>T (p.Gln208Ter)

gnomAD frequency: 0.00004  dbSNP: rs121909581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513106 SCV003522648 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln208*) in the C1QA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 38 amino acid(s) of the C1QA protein. This variant is present in population databases (rs121909581, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with C1q deficiency (PMID: 7594474, 8840296, 9225968, 21654842, 26563161, 29739689, 30008451). It has also been observed to segregate with disease in related individuals. This variant is also known as p.Gln186*. ClinVar contains an entry for this variant (Variation ID: 17073). For these reasons, this variant has been classified as Pathogenic.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000018602 SCV004030492 pathogenic C1Q deficiency criteria provided, single submitter clinical testing
OMIM RCV000018602 SCV000038885 pathogenic C1Q deficiency 1997-07-01 no assertion criteria provided literature only

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