ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)

gnomAD frequency: 0.00008  dbSNP: rs375038091
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816539 SCV000957054 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-06-18 criteria provided, single submitter clinical testing
GeneDx RCV001561967 SCV001784662 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427019 SCV002729381 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-11-01 criteria provided, single submitter clinical testing The p.N728S variant (also known as c.2183A>G), located in coding exon 14 of the FLNA gene, results from an A to G substitution at nucleotide position 2183. The asparagine at codon 728 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available 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.

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.