ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg)

gnomAD frequency: 0.00002  dbSNP: rs766164843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852701 SCV000995415 likely benign Primary dilated cardiomyopathy 2018-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536193 SCV001540421 uncertain significance Rienhoff syndrome 2022-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (rs766164843, gnomAD 0.02%). 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: 691733). This variant has not been reported in the literature in individuals affected with TGFB3-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 295 of the TGFB3 protein (p.Gly295Arg).
Ambry Genetics RCV004029273 SCV003711400 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-06 criteria provided, single submitter clinical testing The c.883G>C (p.G295R) alteration is located in exon 5 (coding exon 5) of the TGFB3 gene. This alteration results from a G to C substitution at nucleotide position 883, causing the glycine (G) at amino acid position 295 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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