Submissions for variant NM_172369.5(C1QC):c.8T>C (p.Val3Ala)

gnomAD frequency: 0.00006  dbSNP: rs367838299

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509718	SCV001716572	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV002070288	SCV002495924	uncertain significance	C1Q deficiency	2022-01-27	criteria provided, single submitter	clinical testing	C1QC NM_172369.4 exon 2 p.Val3Ala (c.8T>C): This variant has been reported in the literature in at least 1 individual with very early onset inflammatory bowel disease (VEO-IBD) (Kelsen 2015 PMID:26193622). This variant is present in 0.8% (218/25750) of South Asian alleles including 1 homozygote in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-22970524-T-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:1164154). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV001509718	SCV004123489	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	C1QC: BP4