ClinVar Miner

Submissions for variant NM_003823.4(TNFRSF6B):c.148G>A (p.Ala50Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004473192 SCV004967924 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The c.148G>A (p.A50T) alteration is located in exon 1 (coding exon 1) of the TNFRSF6B gene. This alteration results from a G to A substitution at nucleotide position 148, causing the alanine (A) at amino acid position 50 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005065131 SCV005718656 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 50 of the TNFRSF6B protein (p.Ala50Thr). This variant is present in population databases (rs764931903, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TNFRSF6B-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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