ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2990C>T (p.Thr997Ile)

dbSNP: rs760387989
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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 RCV002018041 SCV002299741 uncertain significance Immunodeficiency, common variable, 7 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 997 of the CR2 protein (p.Thr997Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with CR2-related conditions.
Ambry Genetics RCV002545555 SCV003622370 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.2990C>T (p.T997I) alteration is located in exon 16 (coding exon 16) of the CR2 gene. This alteration results from a C to T substitution at nucleotide position 2990, causing the threonine (T) at amino acid position 997 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002018041 SCV004180452 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing

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