ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.754G>A (p.Asp252Asn)

gnomAD frequency: 0.00031  dbSNP: rs111439115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648135 SCV000769949 likely benign Immunodeficiency, common variable, 2 2024-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530496 SCV003649706 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.754G>A (p.D252N) alteration is located in exon 5 (coding exon 5) of the TNFRSF13B gene. This alteration results from a G to A substitution at nucleotide position 754, causing the aspartic acid (D) at amino acid position 252 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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