ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)

gnomAD frequency: 0.00002  dbSNP: rs781959191
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 RCV001061077 SCV001225808 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160489 SCV003912782 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetics and Molecular Pathology, SA Pathology RCV003447576 SCV004175546 uncertain significance Thrombocytopenia 2020-02-10 criteria provided, single submitter clinical testing The FLNA c.7559G>A variant is classified as VUS (PM2, PP3) The FLNA c.7559G>A variant is a single nucleotide change in exon 47 of 48 of the FLNA gene, which is predicted to change the amino acid arginine at position 2520 in the protein to histidine. The variant is rare in population databases (PM2). Computational predictions support a deleterious effect on the gene or gene product (PP3). The variant has been reported in dbSNP (rs781959191). It has not been reported in ClinVar or HGMD.

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.