ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) (rs1060500715)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470388 SCV000543672 uncertain significance Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 2017-05-30 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 47 of the FLNA mRNA (c.7908_7910delTGT). This leads to the deletion of 1 amino acid residue(s) in the FLNA protein (p.Val2638del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FLNA-related disease. ClinVar contains an entry for this variant (Variation ID: 405443). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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.