Submissions for variant NM_001006658.3(CR2):c.623_624del (p.Pro208fs)

dbSNP: rs747832403

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001302247	SCV001491446	pathogenic	Immunodeficiency, common variable, 7	2022-10-03	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 1005385). This sequence change creates a premature translational stop signal (p.Pro208Hisfs*3) in the CR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CR2 are known to be pathogenic (PMID: 26325596, 28499783). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CR2-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences	RCV004548147	SCV004109409	likely pathogenic	CR2-related disorder	2023-10-09	criteria provided, single submitter	clinical testing	The CR2 c.623_624delCC variant is predicted to result in a frameshift and premature protein termination (p.Pro208Hisfs*3). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-207642043-TCC-T). Frameshift variants in CR2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Genome-Nilou Lab	RCV001302247	SCV004180404	likely pathogenic	Immunodeficiency, common variable, 7	2023-04-11	criteria provided, single submitter	clinical testing