ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)

gnomAD frequency: 0.00002  dbSNP: rs777965779
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780771 SCV000918304 uncertain significance not specified 2018-04-30 criteria provided, single submitter clinical testing Variant summary: TGFBR1 c.503G>A (p.Arg168His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.2e-06 in 121350 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.503G>A in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001873189 SCV002216638 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001873189 SCV002641835 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-12-16 criteria provided, single submitter clinical testing The p.R168H variant (also known as c.503G>A), located in coding exon 3 of the TGFBR1 gene, results from a G to A substitution at nucleotide position 503. The arginine at codon 168 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003328628 SCV004035536 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV003328628 SCV004158449 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TGFBR1: BP4

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