Submissions for variant NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys)

gnomAD frequency: 0.00004  dbSNP: rs375514495

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001043027	SCV001206738	uncertain significance	Immunodeficiency, common variable, 2	2022-08-23	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 72 of the TNFRSF13B protein (p.Arg72Cys). This variant is present in population databases (rs375514495, gnomAD 0.02%). This missense change has been observed in individual(s) with TNFRSF13B-related conditions (PMID: 30301590). ClinVar contains an entry for this variant (Variation ID: 840913). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics, Fulgent Genetics	RCV002497376	SCV002790480	uncertain significance	Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2	2022-04-11	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV003141958	SCV003806810	uncertain significance	Immunoglobulin A deficiency 2	2022-12-16	criteria provided, single submitter	clinical testing	ACMG classification criteria: PS4 supporting, PM2 supporting
CeGaT Center for Human Genetics Tuebingen	RCV003405236	SCV004142304	uncertain significance	not provided	2023-07-01	criteria provided, single submitter	clinical testing