ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.121G>T (p.Ala41Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002604442 SCV002961875 uncertain significance not provided 2022-10-23 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. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 41 of the TNFRSF6B protein (p.Ala41Ser). This variant is present in population databases (rs372122002, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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