ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.568G>C (p.Gly190Arg) (rs150101848)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788455 SCV000927578 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV001079596 SCV001039433 likely benign Common variable immunodeficiency 2 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001201258 SCV001372363 likely benign not specified 2020-06-11 criteria provided, single submitter clinical testing Variant summary: TNFRSF13B c.568G>C (p.Gly190Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00026 in 250678 control chromosomes in the gnomAD database, including 1 homozygotes. The observed variant frequency is approximately 92.15 fold of the estimated maximal expected allele frequency for a pathogenic variant in TNFRSF13B causing Common Variable Immunodeficiency phenotype (2.9e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.568G>C in individuals affected with Common Variable Immunodeficiency and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely benign.

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