ClinVar Miner

Submissions for variant NM_198053.3(CD247):c.398G>A (p.Arg133Gln)

gnomAD frequency: 0.00003  dbSNP: rs147527561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281055 SCV001468479 uncertain significance Immunodeficiency 25 2021-03-30 criteria provided, single submitter clinical testing CD247 NM_198053.2 exon 7 p.Arg133Gln (c.398G>A):This variant has not been reported in the literature but is present in 0.04% (9/18390) of East Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-167402292-C-T?dataset=gnomad_r2_1). Evolutionary conservation is limited or unavailable; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001281055 SCV001491156 uncertain significance Immunodeficiency 25 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 133 of the CD247 protein (p.Arg133Gln). This variant is present in population databases (rs147527561, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CD247-related conditions. ClinVar contains an entry for this variant (Variation ID: 992558). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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