ClinVar Miner

Submissions for variant NM_001006658.2(CR2):c.3251C>A (p.Ser1084Tyr) (rs142273168)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529249 SCV000652489 uncertain significance Common variable immunodeficiency 7 2019-03-07 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 1084 of the CR2 protein (p.Ser1084Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs142273168, ExAC 0.1%). This variant has not been reported in the literature in individuals with a CR2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on CR2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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