ClinVar Miner

Submissions for variant NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys)

gnomAD frequency: 0.00044  dbSNP: rs768061768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630449 SCV000751405 uncertain significance Common variable immunodeficiency 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 15 of the TNFSF12 protein (p.Glu15Lys). This variant is present in population databases (rs768061768, gnomAD 0.6%). This variant has not been reported in the literature in individuals affected with TNFSF12-related conditions. ClinVar contains an entry for this variant (Variation ID: 526011). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
New York Genome Center RCV001420611 SCV001622931 uncertain significance See cases 2020-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691959 SCV005192661 uncertain significance not provided criteria provided, single submitter not provided

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