ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.587T>G (p.Leu196Arg)

dbSNP: rs886038998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310941 SCV000319567 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-04-20 criteria provided, single submitter clinical testing The p.L196R variant (also known as c.587T>G), located in coding exon 4 of the TGFBR1 gene, results from a T to G substitution at nucleotide position 587. The leucine at codon 196 is replaced by arginine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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