ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.361C>T (p.Gln121Ter)

gnomAD frequency: 0.00001  dbSNP: rs752897955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337115 SCV001530693 pathogenic Immunoglobulin A deficiency 2 2018-07-30 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV004794528 SCV005415010 uncertain significance not provided 2024-05-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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