ClinVar Miner

Submissions for variant NM_001006658.2(CR2):c.1931G>A (p.Cys644Tyr) (rs149972318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650310 SCV000772151 uncertain significance Common variable immunodeficiency 7 2019-07-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 644 of the CR2 protein (p.Cys644Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs149972318, ExAC 0.05%). This variant has not been reported in the literature in individuals with CR2-related disease. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761695 SCV000891874 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000650310 SCV001192648 uncertain significance Common variable immunodeficiency 7 2019-10-23 no assertion criteria provided clinical testing

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