ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.1927C>T (p.Arg643Cys)

gnomAD frequency: 0.00001  dbSNP: rs1472639999
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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 RCV001206872 SCV001378203 uncertain significance Immunodeficiency, common variable, 7 2019-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 643 of the CR2 protein (p.Arg643Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CR2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002561240 SCV003719443 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1927C>T (p.R643C) alteration is located in exon 10 (coding exon 10) of the CR2 gene. This alteration results from a C to T substitution at nucleotide position 1927, causing the arginine (R) at amino acid position 643 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001206872 SCV004180429 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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