ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)

dbSNP: rs1557603993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767906 SCV000898553 uncertain significance C1Q deficiency 2018-07-11 criteria provided, single submitter clinical testing C1QC NM_001114101.2 exon 2 p.Ser7Asn (c.19_20delinsAA): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. This variant represents an in-frame deletion and insertion of 2 nucleotides, resulting in a single amino acid substitution at position 7 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067206 SCV002411893 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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