ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)

dbSNP: rs1379970824
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754430 SCV001987563 uncertain significance not provided 2021-03-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224577 SCV003920551 uncertain significance Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome 2021-03-30 criteria provided, single submitter clinical testing TGFB3 NM_003239.4 exon 1 p.Arg87Met (c.260G>T): This variant has not been reported in the literature, but it is present in 1/33582 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003407783 SCV004106630 uncertain significance TGFB3-related disorder 2022-12-26 criteria provided, single submitter clinical testing The TGFB3 c.260G>T variant is predicted to result in the amino acid substitution p.Arg87Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-76446977-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005057560 SCV005703716 uncertain significance Rienhoff syndrome 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 87 of the TGFB3 protein (p.Arg87Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TGFB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1302541). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TGFB3 protein function with a negative predictive value of 80%. 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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