ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr)

gnomAD frequency: 0.00021  dbSNP: rs138785170
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820713 SCV000961436 uncertain significance Immunodeficiency, common variable, 7 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 908 of the CR2 protein (p.Ile908Thr). This variant is present in population databases (rs138785170, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 662950). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Baylor Genetics RCV000820713 SCV003835081 uncertain significance Immunodeficiency, common variable, 7 2021-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000820713 SCV004180447 uncertain significance Immunodeficiency, common variable, 7 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992405 SCV004811395 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing CR2: PM2, BP4
PreventionGenetics, part of Exact Sciences RCV004738026 SCV005352017 uncertain significance CR2-related disorder 2024-06-06 no assertion criteria provided clinical testing The CR2 c.2723T>C variant is predicted to result in the amino acid substitution p.Ile908Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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