ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.740C>T (p.Thr247Met)

gnomAD frequency: 0.00006  dbSNP: rs149635611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689102 SCV000816740 uncertain significance Immunodeficiency, common variable, 2 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 247 of the TNFRSF13B protein (p.Thr247Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with primary antibody deficiency (PMID: 29921932). ClinVar contains an entry for this variant (Variation ID: 568673). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TNFRSF13B protein function with a negative predictive value of 95%. 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.
Blueprint Genetics RCV000788721 SCV000927938 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000689102 SCV001984390 uncertain significance Immunodeficiency, common variable, 2 2020-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000788721 SCV001992475 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified on exome sequencing in an individual with primary antibody deficiency who also harbored a second TNFRSF13B variant (Abolhassani et al., 2019); This variant is associated with the following publications: (PMID: 29921932)

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