ClinVar Miner

Submissions for variant NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser)

gnomAD frequency: 0.00001  dbSNP: rs755162827
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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 RCV000811263 SCV000951521 uncertain significance Combined immunodeficiency due to OX40 deficiency 2022-04-09 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 655146). This variant has not been reported in the literature in individuals affected with TNFRSF4-related conditions. This variant is present in population databases (rs755162827, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 158 of the TNFRSF4 protein (p.Ala158Ser).
GenomeConnect - Invitae Patient Insights Network RCV001535448 SCV001749359 not provided not provided no assertion provided phenotyping only Variant reported in multiple Invitae PIN participants. Variant interpreted as a Variant of Uncertain Significance and reported most recently on 08/13/2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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