ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs) (rs1555550717)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648133 SCV000769947 pathogenic Common variable immunodeficiency 2 2018-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln17Argfs*15) in the TNFRSF13B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TNFRSF13B-related disease. Loss-of-function variants in TNFRSF13B are known to be pathogenic (PMID: 16007087, 27123465). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001009059 SCV001168869 likely pathogenic not provided 2019-06-13 criteria provided, single submitter clinical testing The c.49delC variant in the TNFRSF13B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.49delC variant causes a frameshift starting with codon Glutamine 17, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Gln17ArgfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.49delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.49delC as a likely pathogenic variant.

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