ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2903-3C>A

gnomAD frequency: 0.00128  dbSNP: rs372214909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966308 SCV001113614 likely benign Immunodeficiency, common variable, 7 2025-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000879 SCV001157961 uncertain significance not specified 2018-11-07 criteria provided, single submitter clinical testing The CR2 c.2903-3C>A variant (rs372214909) is reported in the literature in a cohort of individuals with severe hypertension and renal microangiopathy (Larsen 2018). This variant is found in the African population with an overall allele frequency of 0.39% (97/24954 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site, though mRNA studies would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.2903-3C>A variant is uncertain at this time. References: Larsen CP et al. Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy. Mod Pathol. 2018 Mar;31(3):488-494.
Baylor Genetics RCV000966308 SCV001523481 uncertain significance Immunodeficiency, common variable, 7 2019-09-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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