ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)

gnomAD frequency: 0.00011  dbSNP: rs782549299
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193102 SCV000247387 uncertain significance not specified 2015-05-15 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000193102 SCV000297012 uncertain significance not specified 2015-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314817 SCV000739114 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-07-11 criteria provided, single submitter clinical testing The p.T413M variant (also known as c.1238C>T), located in coding exon 8 of the FLNA gene, results from a C to T substitution at nucleotide position 1238. The threonine at codon 413 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and methionine is the reference amino acid in other vertebrate species. 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.
Invitae RCV001041470 SCV001205091 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001566737 SCV001790303 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21520333)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.