ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) (rs387906855)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620885 SCV000739670 uncertain significance Cardiovascular phenotype 2016-04-26 criteria provided, single submitter clinical testing The p.P263L variant (also known as c.788C>T), located in coding exon 6 of the SMAD3 gene, results from a C to T substitution at nucleotide position 788. The proline at codon 263 is replaced by leucine, an amino acid with similar properties. This variant was described in an individual with thoracic aortic aneurysm (van deLaarIM et al.JMedGenet. 2012;49(1):47-57).This variant was previously reported in theSNPDatabaseasrs387906855.This variant was not reported in population based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP)and 1000 Genomes Project. In the ESP, this variant was not observed in 6500 samples (13000 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.
Genetics Department, University Hospital of Toulouse RCV000023249 SCV000998918 likely pathogenic Loeys-Dietz syndrome 3 2019-07-19 criteria provided, single submitter clinical testing
OMIM RCV000023249 SCV000044540 pathogenic Loeys-Dietz syndrome 3 2012-01-01 no assertion criteria provided literature only

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