ClinVar Miner

Submissions for variant NM_003809.3(TNFSF12):c.365C>T (p.Ala122Val)

gnomAD frequency: 0.00006  dbSNP: rs145233196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039636 SCV001203173 uncertain significance Common variable immunodeficiency 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 122 of the TNFSF12 protein (p.Ala122Val). 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 838148). This variant has not been reported in the literature in individuals affected with TNFSF12-related conditions. This variant is present in population databases (rs145233196, gnomAD 0.02%).
PreventionGenetics, part of Exact Sciences RCV003898046 SCV004712701 uncertain significance TNFSF12-related condition 2023-11-07 criteria provided, single submitter clinical testing The TNFSF12 c.365C>T variant is predicted to result in the amino acid substitution p.Ala122Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-7454287-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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